|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
EMG: myopathic abnormalities
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Difficulty running
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Proximal muscle weakness
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Creatine phosphokinase serum increased
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Difficulty walking up stairs
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).
|
10196377 |
1999 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.
|
11134403 |
2000 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.
|
14678801 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
|
15469449 |
2004 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
|
16010686 |
2005 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
CLINVAR |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.
|
16996541 |
2006 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Symptomatic dysferlin gene mutation carriers: characterization of two cases.
|
17287450 |
2007 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).
|
17331981 |
2007 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dysferlin-deficient muscular dystrophy features amyloidosis.
|
18306167 |
2008 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of the DYSF mutational spectrum in a large cohort of patients.
|
18853459 |
2009 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new phenotype of dysferlinopathy with congenital onset.
|
19084402 |
2009 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
|
21522182 |
2011 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.
|
22057634 |
2011 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Dysferlin-peptides reallocate mutated dysferlin thereby restoring function.
|
23185377 |
2012 |