rs777483913
×
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
rs777483913
×
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
rs777483913
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
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
rs777483913
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.800
GeneticVariation
CLINVAR
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
16141003
2005
rs777483913
×
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
rs777483913
×
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
rs777483913
×
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
rs777483913
×
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
rs777483913
×
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
rs777483913
×
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
rs777483913
×
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
rs777483913
×
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
rs777483913
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.800
CausalMutation
CLINVAR