rs557164942
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.800
GeneticVariation
CLINVAR
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
27363342
2017
rs557164942
×
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
rs557164942
×
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
rs557164942
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.800
GeneticVariation
CLINVAR
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
25079074
2014
rs557164942
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.800
GeneticVariation
CLINVAR
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
17236769
2007
rs557164942
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.800
GeneticVariation
CLINVAR
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
18055493
2007
rs557164942
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.800
GeneticVariation
CLINVAR
Calpainopathy-a survey of mutations and polymorphisms.
10330340
1999
rs557164942
×
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
rs557164942
×
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
rs557164942
×
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
rs557164942
×
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
rs557164942
×
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
rs557164942
×
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
rs557164942
×
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
rs557164942
×
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