|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.
|
7762565 |
1995 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.
|
7795603 |
1995 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
|
8624690 |
1996 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
|
8624690 |
1996 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In a second branch of the family with a diagnosis of limb-girdle muscular dystrophy type 2A (LGMD2A) molecular studies revealed a homozygous 550 delta A mutation in the calcium-activated neutral protease 3 (calpain 3, CANP3) gene in the affected members.
|
8784805 |
1996 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
|
9150160 |
1997 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
|
9150160 |
1997 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
|
9150160 |
1997 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.
|
9246005 |
1997 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
|
9266733 |
1997 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
|
9266733 |
1997 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.
|
9452114 |
1998 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.
|
9452114 |
1998 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
|
9642272 |
1998 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
|
9642272 |
1998 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
BEFREE |
To elucidate the molecular mechanism of LGMD2A, we constructed nine p94 missense point mutants found in LGMD2A and analyzed their p94 unique properties.
|
9642272 |
1998 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
|
9655129 |
1998 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
|
9655129 |
1998 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
|
9762961 |
1998 |