×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
9731526 1998
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
9731527 1998
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.
10825360 2000
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
11053681 2000
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
GeneticVariation
BEFREE
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.11166162 2001
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
Biomarker
BEFREE
Dysferlin is likely required for maintaining the structural integrity of the muscle fiber plasma membrane, and plasma membrane injury is an early event in the pathogenesis of dysferlinopathy .11402103 2001
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
Biomarker
BEFREE
Altered immunolocalization of dysferlin was observed in not only primary dysferlinopathy , but also in the several diseased muscles with normal protein contents.
12767493 2003
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.
12796534 2003
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.
14678801 2003
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
Biomarker
BEFREE
Our findings indicate that muscle membrane disruption and myofiber degeneration in dysferlinopathy were directly mediated by the loss of dysferlin via a new pathogenic mechanism in muscular dystrophies.
15254015 2004
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
GeneticVariation
CLINVAR
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
15469449 2004
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
GeneticVariation
BEFREE
Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal anterior compartment myopathy, which are known by the term 'dysferlinopathy '.
15469449 2004
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
Biomarker
BEFREE
Dysferlin is known to play an essential role in skeletal muscle fibre repair, but the process underlying the pathogenetic mechanism of dysferlinopathy is not completely understood.15677541 2005
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
16010686 2005
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
Biomarker
BEFREE
Dysferlin deficiency in muscle is the most relevant feature for the diagnosis of dysferlinopathy and prompts the search for mutations in DYSF .16010686 2005
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
GeneticVariation
BEFREE
The new R1905X DYSF founder mutation produced the 3 possible dysferlinopathy phenotypes without intrafamilial heterogeneity.
16087766 2005
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.
16087766 2005
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
16100712 2005
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
GeneticVariation
BEFREE
Mutations in dysferlin cause a type of muscular dystrophy known as dysferlinopathy .
16608842 2006
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.
16891820 2006
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
GeneticVariation
CLINVAR
Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
17070050 2007
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
17070050 2007
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
CausalMutation
CLINVAR
Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
17562833 2007
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
Biomarker
BEFREE
The existence of three phenotypes of dysferlinopathy in one pedigree is reported, indicating the involvement of molecules other than dysferlin in the pathogenesis.
17614318 2007
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Dysferlinopathy
0.200
GeneticVariation
CLINVAR
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
17698709 2007