|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.
|
25821721 |
2019 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A new phenotype of dysferlinopathy with congenital onset.
|
19084402 |
2009 |
|
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 |
UNIPROT |
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.
|
17185750 |
2007 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Symptomatic dysferlin gene mutation carriers: characterization of two cases.
|
17287450 |
2007 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
|
16705711 |
2006 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in dysferlin result in limb girdle muscular dystrophy type 2B and Miyoshi myopathy.
|
16996541 |
2006 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
|
16100712 |
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 |
CTD_human |
In vivo and in vitro dysferlin expression in human muscle satellite cells.
|
15535137 |
2004 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
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 |
UNIPROT |
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.
|
11134403 |
2000 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
On western blots of muscle, LGMD2B and MM patients show a similar abundance in dysferlin staining of 15 and 11%, respectively.
|
10196377 |
1999 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
|
9731526 |
1998 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|