rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.800
GeneticVariation
UNIPROT
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
27234031
2017
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.800
GeneticVariation
UNIPROT
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
27020652
2017
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
GeneticVariation
CLINVAR
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
27055500
2016
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
GeneticVariation
CLINVAR
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
27066573
2015
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
CausalMutation
CLINVAR
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.
20694146
2010
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
CausalMutation
CLINVAR
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
18563459
2008
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
GeneticVariation
CLINVAR
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
18563459
2008
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
CausalMutation
CLINVAR
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
18055493
2007
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
GeneticVariation
CLINVAR
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
18055493
2007
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
CausalMutation
CLINVAR
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
15689361
2005
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
GeneticVariation
CLINVAR
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
11371436
2001
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
GeneticVariation
CLINVAR
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.
11166169
2001
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
GeneticVariation
CLINVAR
Calpainopathy-a survey of mutations and polymorphisms.
10330340
1999
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
G
0.800
CausalMutation
CLINVAR
Calpainopathy-a survey of mutations and polymorphisms.
10330340
1999
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.800
GeneticVariation
UNIPROT
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
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.800
GeneticVariation
UNIPROT
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
9762961
1998
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.800
GeneticVariation
UNIPROT
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
9655129
1998
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.800
GeneticVariation
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
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.800
GeneticVariation
UNIPROT
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
9266733
1997
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.800
GeneticVariation
UNIPROT
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
9150160
1997
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.800
GeneticVariation
UNIPROT
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
8624690
1996
rs201736037
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
0.800
GeneticVariation
UNIPROT
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
7720071
1995