×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A .
7720071 1995
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
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
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A .
7720071 1995
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.
7795603 1995
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
8624690 1996
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
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
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
9150160 1997
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
9150160 1997
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
9266733 1997
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.
9777948 1998
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
9642272 1998
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
9642272 1998
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
9762961 1998
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.
9777948 1998
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
9655129 1998
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
9762961 1998
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
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
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
9771675 1998
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
10567047 1999
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
10102422 1999
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
10102422 1999
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Calpainopathy-a survey of mutations and polymorphisms.
10330340 1999
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Calpainopathy-a survey of mutations and polymorphisms.
10330340 1999
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
11053681 2000
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
11053681 2000