×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
25135358 2014
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.
9777948 1998
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
25214167 2014
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
[Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].
20044116 2010
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A].
20517216 2010
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Eosinophils in hereditary and inflammatory myopathies.
24803842 2013
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
27023906 2016
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.
22057634 2011
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
27708273 2017
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
9642272 1998
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).
26501342 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
18563459 2008
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
11053681 2000
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
10567047 1999
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
21984748 2012
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
18055493 2007
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.
20694146 2010
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.
9246005 1997
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
19226146 2009
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Protein sequences encode safeguards against aggregation.
19156839 2009
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
10102422 1999
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation.
25512505 2014
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
17236769 2007
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.
11525884 2001
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
9642272 1998