×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Rhabdomyolysis featuring muscular dystrophies.
26810512 2016
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.
27011640 2016
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
27259757 2016
×
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
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
27066573 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Limb-girdle muscular dystrophy type 2A in Brazilian children.
26677118 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Respiratory chain deficiency in nonmitochondrial disease.
27066545 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Limb-girdle muscular dystrophy type 2A in Brazilian children.
26677118 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Respiratory chain deficiency in nonmitochondrial disease.
27066545 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
27066573 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
25987458 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
27066551 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.
26484845 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
26404900 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
26404900 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Neuromuscular Pathology Case.
26301378 2015
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
25079074 2014
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
25326637 2014
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Crystal structure of calpain-3 penta-EF-hand (PEF) domain - a homodimerized PEF family member with calcium bound at the fifth EF-hand.
24846670 2014
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
25252031 2014
×
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
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
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
GeneticVariation
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
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
25079074 2014