|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
|
28602176 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2A (LGMD2A) is characterised by muscle wasting and progressive degeneration of proximal muscles because of mutations in the CAPN3 gene.
|
28300015 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
|
27447704 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers.
|
28915917 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
|
27363342 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Natural history of LGMD2A for delineating outcome measures in clinical trials.
|
27081656 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
|
26060040 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2A (LGMD2A) is a form of muscular dystrophy caused by mutations in calpain 3 (CAPN3).
|
27055500 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
|
27023906 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
|
27055500 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
|
26886200 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
|
26886200 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
|
27142102 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
|
27259757 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Based on findings in 10 families, our study indicates that a dominantly inherited pattern of calpainopathy exists, and should be considered in the diagnostic work-up and genetic counselling of patients with calpainopathy and single-allele aberrations in CAPN3.
|
27259757 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
|
27055500 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.
|
27262448 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gene mutations causing CAPN3 defects are responsible for limb-girdle muscular dystrophy type 2A (LGMD2A).
|
26363099 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.
|
26632398 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified four novel CAPN3 mutations and demonstrated clinical and pathological heterogeneity in Korean patients with calpainopathy.
|
26632398 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Rhabdomyolysis featuring muscular dystrophies.
|
26810512 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.
|
27011640 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
|
27259757 |
2016 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene.
|
26677118 |
2015 |