Condition: Dysferlinopathy
rs121908955 in
DYSF gene and
Dysferlinopathy
PMID 27666772 2016 Dysferlin mutations and mitochondrial dysfunction.
PMID 17698709 2007 Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
PMID 25574751 2014 Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.
PMID 27641898 2016 Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.
PMID 22194990 2011 Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
PMID 16100712 2005 Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
PMID 16087766 2005 The new R1905X DYSF founder mutation produced the 3 possible dysferlinopathy phenotypes without intrafamilial heterogeneity.
PMID 25312915 2014 Identification of splicing defects caused by mutations in the dysferlin gene.
PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
PMID 18853459 2009 Analysis of the DYSF mutational spectrum in a large cohort of patients.
PMID 22246893 2012 An autopsy case of a dysferlinopathy patient with cardiac involvement.
PMID 23243261 2013 Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
PMID 21816046 2011 Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I.
PMID 12796534 2003 Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.
PMID 26620441 2016 Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.
PMID 25591676 2015 Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
PMID 18276788 2008 Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.
PMID 25868377 2015 Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy.
PMID 14678801 2003 Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.
PMID 27821570 2016 Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.
PMID 21522182 2011 Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
PMID 22297152 2012 Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.
PMID 27363342 2017 Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
PMID 24488599 2014 Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.
PMID 20817457 2010 Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle.
PMID 23254335 2013 DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.
PMID 16010686 2005 Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
PMID 26000923 2016 Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle.
PMID 20497525 2010 Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance.
PMID 19528035 2010 New aspects on patients affected by dysferlin deficient muscular dystrophy.
PMID 20544924 2010 Novel diagnostic features of dysferlinopathies.
PMID 25135358 2014 Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
PMID 27647186 2016 Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
PMID 16891820 2006 Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.
PMID 18294055 2007 Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.
PMID 19594366 2009 Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.
PMID 9731526 1998 Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
PMID 23530687 2013 Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.
PMID 17070050 2007 Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
PMID 27858744 2015 Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells.
PMID 27602406 2016 The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
PMID 26404900 2015 ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
PMID 27447704 2017 Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
PMID 11053681 2000 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
PMID 25821721 2019 Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.
PMID 17825554 2007 Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene.
PMID 19084402 2009 A new phenotype of dysferlinopathy with congenital onset.
PMID 18832576 2008 Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.
PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.
PMID 25783436 2016 Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.
PMID 25493284 2014 A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.
PMID 15469449 2004 Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
PMID 22616201 2011 Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis.
PMID 26916285 2016 Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.
PMID 28403181 2017 Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.
PMID 27229680 2016 The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.
PMID 17562833 2007 Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
PMID 9731527 1998 A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
PMID 10825360 2000 Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.