|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
MGD |
Limb girdle muscular dystrophy type 2B and Miyoshi myopathy are clinically distinct forms of muscular dystrophy that arise from defects in the dysferlin gene.
|
15254015 |
2004 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.
|
11053681 |
2000 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysferlin is a surface membrane protein in skeletal muscle whose deficiency causes distal and proximal, recessively inherited, forms of muscular dystrophy designated Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B), respectively.
|
11532985 |
2001 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysferlin is absent or drastically reduced in patients with the following autosomal recessive disorders: limb-girdle muscular dystrophy type 2B (LGMD-2B), Miyoshi myopathy (MM) and distal anterior compartment myopathy.
|
14678801 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Dysferlin is absent or drastically reduced in patients with the following autosomal recessive disorders: limb-girdle muscular dystrophy type 2B (LGMD-2B), Miyoshi myopathy (MM) and distal anterior compartment myopathy.
|
14678801 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Dysferlin is absent or drastically reduced in patients with the following autosomal recessive disorders: limb-girdle muscular dystrophy type 2B (LGMD-2B), Miyoshi myopathy (MM) and distal anterior compartment myopathy.
|
14678801 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Dysferlin was identified as a gene mutated in limb-girdle muscular dystrophy (type 2B) and Miyoshi myopathy.
|
15066638 |
2004 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies.
|
16010686 |
2005 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies.
|
16010686 |
2005 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies.
|
16010686 |
2005 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies.
|
16010686 |
2005 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysferlin deficiency causes limb-girdle muscular dystrophy type 2B (LGMD2B; proximal weakness) and Miyoshi myopathy (distal weakness).
|
18276788 |
2008 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy.
|
18306167 |
2008 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy.
|
18306167 |
2008 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].
|
23519732 |
2013 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters.
|
26444858 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysferlin-deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and other less frequent phenotypes are a group of recessive disorders called dysferlinopathies.
|
27501525 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Dysferlin myopathy is an autosomal recessive hereditary muscular dystrophy due to deficiency of dysferlin caused by alteration of the DYSF gene; Limb-girdle muscular dystrophy type 2B (LGMD2B) is the most common in Its clinical phenotypes.
|
29794729 |
2018 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
|
25987458 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
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 |