|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.
|
10069710 |
1999 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
|
15843148 |
2005 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The diagnosis of limb girdle muscular dystrophy (LGMD) type 2A (due to mutations in the gene encoding for calpain-3) is currently based on protein analysis, but mutant patients with normal protein expression have also been identified.
|
14578192 |
2003 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb girdle muscular dystrophy 2A (LGMD2A) is the most frequent LGMD variant in the European population, representing about 40% of LGMD.
|
26484845 |
2015 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb girdle muscular dystrophy 2A (LGMD2A), caused by calpain 3 deficiency, is currently diagnosed through the immunodetection of muscle protein by Western blot (WB) analysis .
|
16542520 |
2006 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene.
|
26677118 |
2015 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Calpain-3 deficiency is the most common cause of autosomal-recessive limb girdle muscular dystrophy (LGMD2).
|
17702496 |
2007 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Among the genes affected is Calpain 3, which is mutated in limb girdle muscular dystrophy, a disease phenotypically similar to FSHD.
|
23300487 |
2013 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The LGMD group is still growing today and consists of 19 autosomal dominant and recessive forms (LGMD1A to LGMD1G and LGMD2A to LGMD2M).
|
17339125 |
2007 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations of the calpain III gene have been shown to cause a subset of autosomal recessive LGMDs.
|
10102422 |
1999 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Autosomal recessive limb girdle muscular dystrophies (LGMD) type 2A are a group of disorders characterised by progressive involvement of proximal limb girdle muscles and caused by changes in the CAPN3 gene.
|
16816913 |
2006 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (CAPN3) gene.
|
27005420 |
2016 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A gene responsible for an autosomal recessive form of limb girdle muscular dystrophy (LGMD2, MIM number 253600) has been localized on chromosome 15.
|
8004096 |
1994 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations of the calpain 3 gene have now been identified as the cause of limb-girdle muscular dystrophy 2A.
|
11516996 |
2001 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.
|
29685414 |
2018 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
|
11371436 |
2001 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In an attempt to find a correlation between genotype and muscle pathology in limb-girdle muscular dystrophy 2A we performed histopathological investigation of a group of 31 patients subdivided according to the type of pathologic CAPN3 gene mutation.
|
23821418 |
2013 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in CANP3, the gene encoding muscle-specific calpain, were used to identify this gene as the genetic site responsible for autosomal recessive LGMD type 2A (LGMD2A; MIM 253600).
|
9150160 |
1997 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
|
27259757 |
2016 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
To determine the incidence and genotypes of the calpain 3 (p94) gene mutations in Japanese LGMD patients, we sequenced the gene in 80 patients with clinical characteristics of autosomal recessive or sporadic LGMD.
|
11525884 |
2001 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic disorders caused by Col6A1, Col6A2, and Col6A3 mutations, the autosomal dominant form of Emery-Dreifuss muscular dystrophy (LMNA defects) and calpain-deficient limb girdle muscular dystrophy (CAPN3 defects).
|
20225280 |
2010 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies which is caused by mutation in CAPN3 gene.
|
27262448 |
2016 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the calpain 3 (CAPN3) gene are responsible for limb-girdle muscular dystrophy (LGMD) type 2A.
|
14981715 |
2004 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
CAPN3, the locus for LGMD2A limb girdle muscular dystrophy, and its mouse orthologue differ extensively in expression in embryonic heart, lens and smooth muscle.
|
10607827 |
2000 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
LHGDN |
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
|
18337726 |
2008 |