Condition: Neuromuscular Diseases


rs121909525 in ACTA1 gene and Neuromuscular Diseases PMID 15226407 2004 Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

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

PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

PMID 17227580 2007 Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes.

PMID 25470062 2015 Structure of the F-actin-tropomyosin complex.

PMID 12921789 2003 Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

rs150974575 in DES gene and Neuromuscular Diseases 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 22153487 2012 High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

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

PMID 14724127 2004 Desmin myopathy.

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

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

rs727503036 in EMD gene and Neuromuscular Diseases PMID 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

PMID 1998333 1991 Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.

PMID 1178008 1975 Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease.

PMID 10428430 1999 Mutation analysis in Emery-Dreifuss muscular dystrophy.

PMID 8595407 1995 Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.

PMID 7294729 1981 Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia.

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

PMID 8595406 1995 Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.

PMID 17355552 2007 Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred.

PMID 10220866 1999 Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy.

rs121908334 in LDB3 gene and Neuromuscular Diseases PMID 19377068 2009 Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.

PMID 27618136 2016 Mitochondrial dysfunction in myofibrillar myopathy.

PMID 24647531 2014 ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle.

PMID 24668811 2014 Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.

PMID 15668942 2005 Mutations in ZASP define a novel form of muscular dystrophy in humans.

PMID 18765652 2008 Distinct muscle imaging patterns in myofibrillar myopathies.

PMID 17337483 2007 Zaspopathy in a large classic late-onset distal myopathy family.

PMID 28349680 2017 Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin.

rs267607581 in LMNA gene and Neuromuscular Diseases PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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

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

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

PMID 15678000 2005 [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

PMID 19446900 2009 Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.

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

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.

rs367543052 in MHRT;MYH7 gene and Neuromuscular Diseases PMID 20733148 2010 MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

PMID 12975303 2003 The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.

PMID 15322983 2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

PMID 21395566 2012 Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

rs397516248 in MYH7;MHRT gene and Neuromuscular Diseases 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 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 22918376 2013 Myosinopathies: pathology and mechanisms.

rs193922839 in RYR1 gene and Neuromuscular Diseases PMID 17483490 2007 Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

PMID 19645060 2009 A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

PMID 22473935 2012 Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.

PMID 23553787 2013 RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

PMID 18253926 2008 Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

PMID 20839240 2010 RYR1 mutations are a common cause of congenital myopathies with central nuclei.

PMID 21062345 2011 Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

PMID 24195946 2013 Using exome data to identify malignant hyperthermia susceptibility mutations.

PMID 21455645 2011 Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.

PMID 20080402 2010 Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

PMID 25476234 2014 Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

PMID 24951453 2014 RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.

rs397517481 in TTN;TTN-AS1 gene and Neuromuscular Diseases PMID 23975875 2013 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.