|
| Entrez Id: |
825 |
| Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation |
CLINVAR |
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
|
17318636 |
2007 |
|
| 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 |
GeneticVariation |
CLINVAR |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
|
| 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 |
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 |
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
|
22378277 |
2012 |
|
| 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 |
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
|
14578192 |
2003 |
|
| Entrez Id: |
825 |
| Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation |
CLINVAR |
Screening of the CAPN3 gene in patients with possible LGMD2A.
|
16650086 |
2006 |
|
| 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 |
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 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 |
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 |
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 |
GeneticVariation |
CLINVAR |
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
|
14981715 |
2004 |
|
| Entrez Id: |
825 |
| Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation |
CLINVAR |
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
|
18337726 |
2008 |
|
| 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 |
GeneticVariation |
CLINVAR |
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
|
17979987 |
2007 |
|
| 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 |
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
|
8624690 |
1996 |
|
| Entrez Id: |
825 |
| Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation |
CLINVAR |
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family].
|
15884399 |
2005 |
|
| Entrez Id: |
825 |
| Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation |
CLINVAR |
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.
|
7762565 |
1995 |
|
| Entrez Id: |
825 |
| Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation |
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 |
Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system.
|
16627476 |
2006 |
|
| Entrez Id: |
825 |
| Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation |
CLINVAR |
Eosinophils in hereditary and inflammatory myopathies.
|
24803842 |
2013 |