rs758795961
|
CAPN3;LOC105370794
|
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 |
rs758795961
|
CAPN3;LOC105370794
|
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 |
rs758795961
|
CAPN3;LOC105370794
|
Limb-girdle muscular dystrophy type 2A
|
C |
0.800 |
CausalMutation |
CLINVAR |
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
|
18055493 |
2007 |
rs758795961
|
CAPN3;LOC105370794
|
Limb-girdle muscular dystrophy type 2A
|
C |
0.800 |
CausalMutation |
CLINVAR |
The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach.
|
11297944 |
2001 |
rs758795961
|
CAPN3;LOC105370794
|
Limb-girdle muscular dystrophy type 2A
|
C |
0.800 |
CausalMutation |
CLINVAR |
Calpainopathy-a survey of mutations and polymorphisms.
|
10330340 |
1999 |
rs758795961
|
CAPN3;LOC105370794
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
|
9762961 |
1998 |
rs758795961
|
CAPN3;LOC105370794
|
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 |
rs758795961
|
CAPN3;LOC105370794
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
|
9655129 |
1998 |
rs758795961
|
CAPN3;LOC105370794
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
|
9771675 |
1998 |
rs758795961
|
CAPN3;LOC105370794
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
|
9266733 |
1997 |
rs758795961
|
CAPN3;LOC105370794
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
|
9150160 |
1997 |
rs758795961
|
CAPN3;LOC105370794
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
|
8624690 |
1996 |
rs758795961
|
CAPN3;LOC105370794
|
Limb-girdle muscular dystrophy type 2A
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |