rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
|
27020652 |
2017 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
|
27234031 |
2017 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.
|
26632398 |
2016 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
|
27055500 |
2016 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
|
25252031 |
2014 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
|
25135358 |
2014 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
|
21984748 |
2012 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
|
22378277 |
2012 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
|
21204801 |
2011 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
|
18854869 |
2009 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
|
19226146 |
2009 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
|
19226146 |
2009 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
|
17994539 |
2008 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Gene expression profiling in limb-girdle muscular dystrophy 2A.
|
19015733 |
2008 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
|
18563459 |
2008 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
|
18055493 |
2007 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
|
16971480 |
2007 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
|
18055493 |
2007 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
|
17157502 |
2007 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
|
16372320 |
2006 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
|
15221789 |
2004 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
|
14578192 |
2003 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.800 |
CausalMutation |
CLINVAR |
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
|
14578192 |
2003 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
|
9762961 |
1998 |
rs141656719
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.
|
9452114 |
1998 |