|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by any of over 150 mutations in the calpain-3 (CAPN3) gene.
|
15757244 |
2004 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in CAPN3, which encodes an intracellular cysteine protease.
|
17258832 |
2007 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in calpain 3 (CAPN3).
|
19015733 |
2008 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the gene CAPN3 located in the chromosome region 15q15.1-q21.1.
|
21496626 |
2011 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by a deficiency of calpain-3/p94.
|
22006685 |
2011 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.
|
23597518 |
2015 |
|
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 |
|
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 |
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 |
BEFREE |
Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies (LGMDs) caused by mutations in the CAPN3 gene.
|
30056071 |
2018 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Calpain 3 is the muscle-specific member of the calcium activated neutral protease family and primary mutations in the CAPN3 gene cause limb girdle muscular dystrophy type 2A.
|
11053681 |
2000 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
BEFREE |
Calpain 3, commonly called p94 in the literature, is the abundant skeletal muscle-specific calpain that is genetically linked to limb girdle muscular dystrophy type 2A.
|
16533054 |
2006 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Calpain 3 is a calcium-dependent cysteine protease that is primarily expressed in skeletal muscle and is implicated in limb girdle muscular dystrophy type 2A.
|
20139084 |
2010 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
BEFREE |
Calpain-3 deficiency causes oxidative and nitrosative stress-induced damage in skeletal muscle of LGMD2A patients, but mitochondrial respiratory chain function and anti-oxidant levels have not been systematically assessed in this clinical population previously.
|
25079074 |
2014 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Calpain-3 is abundant in skeletal muscle, where its mutation-induced loss of function causes limb-girdle muscular dystrophy type 2A.
|
30254072 |
2018 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
|
9266733 |
1997 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
|
9266733 |
1997 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
|
25987458 |
2015 |
|
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 |
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 |
A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy.
|
14645990 |
2003 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
|
17318636 |
2007 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
|
17318636 |
2007 |