rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
27447704
2017
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Rhabdomyolysis featuring muscular dystrophies.
26810512
2016
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
26886200
2016
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
25079074
2014
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.
20694146
2010
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
18563459
2008
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
18334579
2008
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
18055493
2007
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
17562833
2007
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
15726252
2005
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
16141003
2005
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Clinical variability in calpainopathy: what makes the difference?
12461690
2002
rs794727697
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
T
0.700
CausalMutation
CLINVAR
Calpainopathy-a survey of mutations and polymorphisms.
10330340
1999