×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
27234031
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
27500519
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
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
CausalMutation
CLINVAR
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
27431290
2017
×
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
CausalMutation
CLINVAR
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
27020652
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
27020652
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
27447704
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
28915917
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.
28403181
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
28602176
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
27447704
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
27363342
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Natural history of LGMD2A for delineating outcome measures in clinical trials.
27081656
2016
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218
2016
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
26060040
2016
×
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
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
27055500
2016
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
26886200
2016
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
26886200
2016
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
27142102
2016
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
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
GeneticVariation
CLINVAR
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
27055500
2016
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
CLINVAR
Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.
27262448
2016
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
CausalMutation
CLINVAR
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.
26632398
2016