DYSF, dysferlin, 8291

N. diseases: 144; N. variants: 191
Disease: Miyoshi Muscular Dystrophy 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Dysferlin encoding gene (DYS) is mutated in the autosomal recessive disorders Miyoshi myopathy, Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and distal anterior compartment myopathy, causing dysferlin deficiency in muscle biopsy. 17825554 2007
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy. 16087766 2005
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. 16023782 2006
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Mutations in the gene encoding dysferlin (DYSF) cause the allelic autosomal recessive disorders limb girdle muscular dystrophy 2B and Miyoshi myopathy. 16705711 2006
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE The phenotypic heterogeneity associated with ANO5 mutations is reminiscent of that observed with Dysferlin (DYSF) mutations that can cause both LGMD2B and Miyoshi myopathy (MMD1). 20096397 2010
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Recently, we encountered novel, de novo mutations in the DYSF gene in a patient with MM. 29138090 2018
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease UNIPROT The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry. 15515206 2004
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Dysferlin was identified as a gene mutated in limb-girdle muscular dystrophy (type 2B) and Miyoshi myopathy. 15066638 2004
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE This is the largest Japanese family with Miyoshi myopathy showing intrafamilial phenotypic variation and sharing a common mutation in dysferlin. 11231027 2001
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy. 15116377 2004
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. 18306167 2008
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease UNIPROT Normal tissue sections show that dysferlin localizes to the sarcolemma while tissue sections from MM and LGMD patients show minimal staining which is indistinguishable between the two types. 10196377 1999
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Dysferlin, the protein product of the gene mutated in patients with an autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) and a distal muscular dystrophy, Miyoshi myopathy, is homologous to a Caenorhabditis elegans spermatogenesis factor, FER-1. 10995573 2000
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Mutations in the DYSF gene underlie two main muscle diseases: Limb Girdle Muscular Dystrophy (LGMD) 2B and Miyoshi myopathy (MM). 16100712 2005
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease UNIPROT Mutations in the DYSF gene underlie two main muscle diseases: Limb Girdle Muscular Dystrophy (LGMD) 2B and Miyoshi myopathy (MM). 16100712 2005
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE The MRI pattern of muscle involvement was the same for patients with MM and patients with LGMD2B. 20574037 2010
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Mutations in dysferlin were recently described in patients with Miyoshi myopathy, a disorder that preferentially affects the distal musculature, and in patients with Limb-Girdle Muscular Dystrophy 2B, a disorder that affects the proximal musculature. 10766988 2000
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM) are autosomal recessive disorders caused by mutations in the dysferlin gene on chromosome 2p13. 11134403 2000
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Limb girdle muscular dystrophy (LGMD) type 2B and distal Miyoshi myopathy (MM) are caused by mutations in a recently discovered mammalian gene coding for a skeletal muscle protein called dysferlin. 12734659 2003
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease UNIPROT Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. 11959863 2002
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE To investigate the clinical, neurophysiological, histopathological, and genetic features in 4 patients with MM from 2 unrelated Chinese families demonstrating linkage to the dysferlin locus. 15477515 2004
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease UNIPROT Identical mutations in the dysferlin gene can produce more than one myopathy phenotype (MM, limb girdle dystrophy, distal myopathy with anterior tibial onset). 9731526 1998
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Mutations in the gene DYSF, which codes for the protein dysferlin, underlie Miyoshi myopathy and limb-girdle muscular dystrophy 2B in humans and produce a slowly progressing skeletal muscle degenerative disease in mice. 19834057 2009
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE We report a novel pair of heterozygous mutations in the 3'-splicing site of exon 26 and the translation site of exon 28 of the dysferlin gene in two siblings, and effective treatment of their MM with dantrolene. 17868276 2007
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		0.700 GeneticVariation disease BEFREE Mutations in the human dysferlin gene ( DYSF) cause autosomal recessive muscular dystrophies characterized by degeneration and weakness of proximal and/or distal muscles: limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). 14673575 2003