rs727504379 in ACTC1;LOC101928174 gene and Cardiomyopathy, Dilated

PMID 25201647 2014 Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.

rs727502886 in ACTN2 gene and Cardiomyopathy, Dilated

PMID 20022194 2010 Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

rs7597774 in ADD2 gene and Cardiomyopathy, Dilated

PMID 20975947 2010 Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy.

rs867410737 in ATP5F1D gene and Cardiomyopathy, Dilated

PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

rs1554875409 in BAG3 gene and Cardiomyopathy, Dilated

PMID 25925243 2015 BAG3: a new player in the heart failure paradigm.

PMID 21459883 2011 A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

PMID 25728519 2015 BAG3 myofibrillar myopathy presenting with cardiomyopathy.

PMID 21353195 2011 Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

PMID 22337857 2012 Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

PMID 25008357 2014 The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

PMID 28737513 2017 Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

PMID 24558114 2014 Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.

rs397516784 in CEP85L;PLN gene and Cardiomyopathy, Dilated

PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

PMID 22427649 2012 Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

PMID 17010801 2006 Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.

PMID 22155237 2012 The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.

PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22820313 2012 Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

PMID 19324307 2009 Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.

rs150974575 in DES gene and Cardiomyopathy, Dilated

PMID 20696008 2011 A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

PMID 22153487 2012 High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

PMID 14724127 2004 Desmin myopathy.

PMID 10717012 2000 Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

PMID 11073539 2000 Desmin splice variants causing cardiac and skeletal myopathy.

PMID 12620971 2003 On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

PMID 19587455 2009 Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.

PMID 23815709 2013 Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

PMID 19716701 2009 Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.

PMID 22484823 2013 Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.

PMID 23155419 2012 Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

PMID 22275259 2012 Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.

PMID 19879535 2009 Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

PMID 18061454 2008 Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.

PMID 17720647 2007 Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

PMID 19763525 2009 "Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties."

rs3130000 in DHX16 gene and Cardiomyopathy, Dilated

PMID 23853074 2014 A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.

rs727504327 in DNASE1L1;TAZ gene and Cardiomyopathy, Dilated

PMID 21300850 2011 Barth syndrome mutations that cause tafazzin complex lability.

PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

rs758537946 in DSG2 gene and Cardiomyopathy, Dilated

PMID 21606396 2011 Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.

PMID 23889974 2013 Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced.

rs397516706 in DSG2-AS1;DSG2 gene and Cardiomyopathy, Dilated

PMID 21397041 2011 Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.

PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

PMID 23381804 2013 Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.

rs397516943 in DSP gene and Cardiomyopathy, Dilated

PMID 26850880 2016 Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 23810894 2013 Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

PMID 25616645 2015 Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.

PMID 28588093 2017 Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications.

PMID 16917092 2006 Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11063735 2000 Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

PMID 16467215 2006 Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.

PMID 21859740 2011 Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.

PMID 20716751 2010 Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

PMID 10594734 1999 Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.

PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

PMID 19558499 2009 Skin and heart: une liaison dangereuse.

PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

rs4713429 in HCG22 gene and Cardiomyopathy, Dilated

PMID 23853074 2014 A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.

rs1739843 in HSPB7 gene and Cardiomyopathy, Dilated

PMID 20975947 2010 Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy.

rs111569862 in LMNA gene and Cardiomyopathy, Dilated

PMID 18714801 2008 A novel mutation in a large French-Canadian family with LGMD1B.

PMID 27884249 2016 Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers.

PMID 16715312 2006 Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.

PMID 24058181 2014 Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects.

PMID 24001739 2013 The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.

PMID 19875404 2009 The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.

PMID 17987279 2008 Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.

PMID 21840938 2011 MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy.

PMID 18585512 2008 Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 20160190 2010 Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 22177269 2012 Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.

PMID 18646565 2007 Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

PMID 28679633 2017 Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 8621584 1996 An alternative splicing product of the lamin A/C gene lacks exon 10.

PMID 14684700 2003 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

PMID 18337098 2008 Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation.

PMID 10662742 2000 Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.

PMID 18816602 2008 A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.

PMID 23977161 2013 Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.

PMID 19328042 2009 A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death.

PMID 11792810 2001 Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.

PMID 15972724 2005 Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

PMID 18035086 2007 High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

PMID 10580070 1999 Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

PMID 11561226 2001 Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

PMID 18606848 2008 Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.

PMID 12920062 2003 Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

PMID 17334235 2007 Lamin AC mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans.

PMID 18926329 2008 Long-term outcome and risk stratification in dilated cardiolaminopathies.

PMID 18795223 2009 Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

PMID 22266370 2012 Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 23183350 2013 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

PMID 22224630 2012 Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.

PMID 24846508 2014 Lamin A/C mutations in dilated cardiomyopathy.

PMID 27723096 2017 Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.

PMID 23853504 2013 Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

PMID 27585670 2017 Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.

PMID 29237675 2017 Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.

PMID 29149195 2017 Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.

PMID 16407522 2006 Primary prevention of sudden death in patients with lamin A/C gene mutations.

PMID 21632249 2011 Inflammatory changes in infantile-onset LMNA-associated myopathy.

PMID 16386954 2006 Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.

PMID 20576434 2010 Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

PMID 16990647 2006 Abstracts from the 11th Annual Meeting of the ECCR (European Council for Cardiovascular Research), Nice, France, 29 September-1 October 2006.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 21483645 2011 Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

PMID 12032588 2002 Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

PMID 10814726 2000 Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

PMID 23360689 2013 Cardioembolic stroke related to limb-girdle muscular dystrophy 1B.

PMID 11138304 2000 High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.

PMID 11897440 2002 Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

PMID 19318026 2009 Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.

PMID 19167105 2010 Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.

PMID 14675861 2003 Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.

PMID 18031519 2008 Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation.

PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

PMID 24915601 2014 Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.

PMID 17377071 2007 Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

PMID 28798025 2017 Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.

PMID 16156025 2005 Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1.

PMID 21689390 2011 Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy.

PMID 16537768 2006 Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy.

PMID 12714972 2003 Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

PMID 10908904 2000 Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.

PMID 20848652 2011 Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

PMID 11503164 2001 Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

PMID 10939567 2000 Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

PMID 20497714 2010 Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.

PMID 16266469 2005 [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy].

PMID 17386158 2007 [Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells].

PMID 21151901 2010 LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.

PMID 20155465 2010 Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.

PMID 16630578 2006 Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.

PMID 27886618 2017 Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy.

PMID 23142632 2013 Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation.

PMID 29382405 2018 Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 26383716 2015 Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification.

PMID 28790152 2017 Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

PMID 19882644 2010 Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.

PMID 19638735 2009 Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.

PMID 21315846 2011 Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia.

PMID 10080180 1999 Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

PMID 23427149 2013 Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

PMID 24375749 2014 Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.

PMID 18564364 2008 Laminopathies in Russian families.

PMID 16965317 2006 The laminopathies: a clinical review.

PMID 23062543 2012 Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy.

PMID 29943882 2018 The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.

PMID 22019351 2012 Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy.

rs45544633 in MHRT;MYH7 gene and Cardiomyopathy, Dilated

PMID 26383716 2015 Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification.

PMID 19854198 2010 Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.

PMID 19412328 2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

PMID 24047955 2013 Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes.

PMID 25961035 2015 The sarcomeric M-region: a molecular command center for diverse cellular processes.

PMID 22155079 2012 Effects of pathogenic proline mutations on myosin assembly.

PMID 23153285 2012 A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.

PMID 22337857 2012 Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

PMID 18660445 2008 Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy.

PMID 15556047 2004 Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.

PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

rs114638163 in MIPEP gene and Cardiomyopathy, Dilated

PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs397515947 in MYBPC3 gene and Cardiomyopathy, Dilated

PMID 25351510 2015 Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

PMID 9562578 1998 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 23549607 2013 T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.

PMID 15519027 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

PMID 22122802 2011 Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities?

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 21750094 2011 Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

PMID 17081393 2006 [Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene].

PMID 20031602 2009 Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.

rs121913642 in MYH7 gene and Cardiomyopathy, Dilated

PMID 16983074 2006 Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function.

PMID 22949430 2012 Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PMID 17351073 2007 Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.

PMID 2753225 1989 Human growth hormone stimulates somatomedin C/insulin-like growth factor I production by the human lymphoid cell line, IM-9.

PMID 23313350 2013 Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 24691700 2015 A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.

PMID 21211974 2011 Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.

PMID 21750094 2011 Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

PMID 21943931 2011 Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy.

PMID 26025024 2015 Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

PMID 15769782 2005 Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

PMID 19412328 2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

PMID 29212898 2017 Genetic Testing in Pediatric Left Ventricular Noncompaction.

PMID 20573160 2011 Haplotype sharing test maps genes for familial cardiomyopathies.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 23054336 2013 Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.

rs397516248 in MYH7;MHRT gene and Cardiomyopathy, Dilated

PMID 22918376 2013 Myosinopathies: pathology and mechanisms.

PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 25576864 2015 A rare mutation in MYH7 gene occurs with overlapping phenotype.

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

rs137853197 in NEXN gene and Cardiomyopathy, Dilated

PMID 19881492 2009 Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.

rs111033559 in PLN;CEP85L gene and Cardiomyopathy, Dilated

PMID 22427649 2012 Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

PMID 19139388 2009 Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.

PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

PMID 18056057 2008 Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.

PMID 21282613 2011 Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.

PMID 25593317 2015 Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.

PMID 12610310 2003 Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.

PMID 25928149 2015 A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.

PMID 23308118 2013 Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.

rs267607002 in RBM20 gene and Cardiomyopathy, Dilated

PMID 22004663 2012 Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.

PMID 22561820 2012 King of hearts: a splicing factor rules cardiac proteins.

PMID 19712804 2009 Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.

PMID 26604136 2016 Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells.

PMID 22466703 2012 RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.

PMID 20590677 2010 Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

PMID 23861363 2013 Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.

PMID 27496873 2016 A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.

rs11701453 in RUNX1 gene and Cardiomyopathy, Dilated

PMID 20975947 2010 Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy.

rs199473161 in SCN5A gene and Cardiomyopathy, Dilated

PMID 24815523 2014 Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.

PMID 18048769 2008 Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia.

PMID 17442746 2007 Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities.

PMID 15671429 2005 Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

PMID 19412328 2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

PMID 22766342 2012 Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

PMID 21167004 2010 SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 22999724 2012 R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.

PMID 22277643 2012 Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.

PMID 21596231 2011 SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

PMID 20458009 2010 Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.

PMID 22710484 2012 Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.

PMID 20129283 2010 An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

PMID 9521325 1998 Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.

PMID 22899775 2012 Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.

rs749838192 in SCO2;NCAPH2 gene and Cardiomyopathy, Dilated

PMID 20159436 2010 A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.

rs387907218 in TAZ gene and Cardiomyopathy, Dilated

PMID 11896212 2002 Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.

PMID 4685904 1973 Two cases of endocardial fibroelastosis--possible x-linked determination.

PMID 12468278 2002 Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.

PMID 9382096 1997 The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

rs104894655 in TCAP gene and Cardiomyopathy, Dilated

PMID 10655062 2000 Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

rs397516355 in TNNI3 gene and Cardiomyopathy, Dilated

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

rs397516464 in TNNT2 gene and Cardiomyopathy, Dilated

PMID 15923195 2005 Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

PMID 15542288 2004 Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.

PMID 19324435 2010 Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects.

PMID 28669108 2017 Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 29367539 2017 Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy.

PMID 20031601 2009 Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.

PMID 19412328 2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

PMID 15623536 2005 Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.

PMID 11862580 2002 Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy.

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PMID 20079745 2010 Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins.

PMID 20978592 2010 Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.

PMID 31333075 2019 RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

PMID 31568572 2019 Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

PMID 23539503 2013 Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.

PMID 23383212 2013 Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model.

PMID 22675533 2012 Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.

PMID 11773635 2002 Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.

PMID 12923187 2003 Different functional properties of troponin T mutants that cause dilated cardiomyopathy.

PMID 18612386 2008 The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 24992688 2014 A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).

PMID 23074333 2012 Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.

PMID 22517884 2012 Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

PMID 24367593 2013 Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.

PMID 24205113 2013 Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

PMID 15464434 2005 Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity.

PMID 14654368 2003 Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.

PMID 11684629 2001 Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.

PMID 19253838 2008 [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population].

PMID 17932326 2007 Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.

PMID 15769782 2005 Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

PMID 21551322 2011 Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

rs199476310 in TPM1 gene and Cardiomyopathy, Dilated

PMID 21483645 2011 Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

PMID 20215591 2010 Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

PMID 20530761 2010 The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.

PMID 20117437 2010 Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.

PMID 11106625 2000 Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.

PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

rs267607155 in TTN gene and Cardiomyopathy, Dilated

PMID 11788824 2002 Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

PMID 28941705 2017 Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 10051295 1999 Familial dilated cardiomyopathy locus maps to chromosome 2q31.

PMID 26315439 2015 HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.

rs1064793814 in TTN-AS1;TTN gene and Cardiomyopathy, Dilated

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 26735901 2016 Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 23418287 2013 Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

rs140743001 in TTN;TTN-AS1 gene and Cardiomyopathy, Dilated

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

PMID 23418287 2013 Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

PMID 16733766 2006 Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

PMID 30536954 2019 Neuromuscular transmission defects in myopathies: Rare but worth searching for.

PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

PMID 15802564 2005 The kinase domain of titin controls muscle gene expression and protein turnover.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 17444505 2007 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

PMID 25163546 2015 Atlas of the clinical genetics of human dilated cardiomyopathy.

PMID 26899768 2016 Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

rs397517244 in VCL gene and Cardiomyopathy, Dilated

PMID 16949038 2006 Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc.

PMID 17785437 2007 Cardiac-myocyte-specific excision of the vinculin gene disrupts cellular junctions, causing sudden death or dilated cardiomyopathy.

rs10927875 in ZBTB17 gene and Cardiomyopathy, Dilated

PMID 21459883 2011 A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.