rs149095128
×
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
rs149095128
×
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
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
CausalMutation
CLINVAR
Calpainopathy-a survey of mutations and polymorphisms.
10330340
1999
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
GeneticVariation
CLINVAR
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
22443334
2012
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
CausalMutation
CLINVAR
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
11053681
2000
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
CausalMutation
CLINVAR
Resistance training in patients with limb-girdle and becker muscular dystrophies.
23169433
2013
rs149095128
×
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
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
GeneticVariation
CLINVAR
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
18055493
2007
rs149095128
×
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
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
CausalMutation
CLINVAR
Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A.
19556129
2009
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
GeneticVariation
CLINVAR
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
11053681
2000
rs149095128
×
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
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
CausalMutation
CLINVAR
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
17994539
2008
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
GeneticVariation
CLINVAR
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
26886200
2016
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
GeneticVariation
CLINVAR
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
17994539
2008
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
CausalMutation
CLINVAR
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
26886200
2016
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
CausalMutation
CLINVAR
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
22443334
2012
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
GeneticVariation
CLINVAR
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
25135358
2014
rs149095128
×
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
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
GeneticVariation
CLINVAR
Resistance training in patients with limb-girdle and becker muscular dystrophies.
23169433
2013
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
CausalMutation
CLINVAR
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
18055493
2007
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
GeneticVariation
CLINVAR
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
18337726
2008
rs149095128
×
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
rs149095128
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
A
0.800
CausalMutation
CLINVAR
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
25135358
2014
rs149095128
×
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