|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.
|
25821721 |
2019 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dysferlin-deficiency due to mutations in the dysferlin gene leads to muscular dystrophy (Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD2B), distal myopathy with anterior tibial onset (DMAT)), typically with early adult onset.
|
31019989 |
2019 |
|
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 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Dysferlin, the protein missing in limb girdle muscular dystrophy 2B and Miyoshi myopathy, concentrates in transverse tubules of skeletal muscle, where it stabilizes voltage-induced Ca<sup>2+</sup> transients against loss after osmotic shock injury (OSI).
|
28568606 |
2017 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Conclusion: A novel duplication of 22 bases (c.897_918dup; p.Gly307Leufs5X) in the DYSF gene was identified in a family suffering from Miyoshi myopathy.
|
29209666 |
2017 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Loss-of-function mutations of DYSF result in different types of muscular dystrophy mainly manifesting as limb girdle muscular dystrophy 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1).
|
25904108 |
2015 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Defects in dysferlin result in limb-girdle muscular dystrophy type 2B and Miyoshi myopathy in humans and myopathy in A/J(dys-/-) and BLAJ mice, but the pathomechanism of the myopathy is not understood.
|
24685690 |
2014 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy.
|
23243261 |
2013 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Using our induced differentiation technique, we successfully recreated the pathological condition of MM in vitro, demonstrating defective membrane repair in hiPSC-derived myotubes from an MM patient and phenotypic rescue by expression of full-length DYSFERLIN (DYSF).
|
23626698 |
2013 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
We described 8 Chinese patients with dysferlinopathy (four had a distal phenotype of MM; one had a phenotype of DMAT and three presented with LGMD2B).
|
23254335 |
2013 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
We identified 7 patients with LGMD2B or Miyoshi myopathy (MM) phenotypes and performed detailed history, physical examination, and mutation analyses of genomic DNA.
|
23519732 |
2013 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our data suggest for the first time that lentivirus-mediated delivery of full-length dysferlin in stem cells isolated from Miyoshi myopathy patients could represent an alternative therapeutic approach for treatment of dysferlinopathies.
|
24028392 |
2013 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dysferlin cause the progressive muscular dystrophies Miyoshi myopathy, limb girdle muscular dystrophy 2B, and distal anterior compartment myopathy.
|
22318734 |
2012 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy.
|
22666441 |
2012 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) and the second most common being LGMD.
|
21556485 |
2012 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Symptomatology begins in the posterior muscle compartment of the calf and its clinical course progresses slowly in Miyoshi myopathy whereas LGMD2B involves predominantly the proximal muscles of the lower limbs.
|
21392994 |
2011 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in dysferlin lead to Limb Girdle Muscular Dystrophy 2B (LGMD2B), Miyoshi Myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (DMAT).
|
21119217 |
2011 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dysferlin gene mutations cause limb-girdle muscular dystrophy (LGMD) 2B, Miyoshi myopathy (MM) and distal myopathy of the anterior tibialis.
|
21522182 |
2011 |
|
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 |
|
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 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A deficiency of the dysferlin protein results in limb girdle muscular dystrophy type 2B and Miyoshi myopathy, with resulting plasma membrane abnormalities in myofibers.
|
20413686 |
2010 |
|
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 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM).
|
18853459 |
2009 |
|
Miyoshi Muscular Dystrophy 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM).
|
18853459 |
2009 |