|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.
|
7633422 |
1995 |
|
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 |
A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classified as LGMD2.
|
8320700 |
1993 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Recently six different loci for LGMD have been reported: 5q (LGMD1A), 15q (LGMD2A), 2p (LGMD2B), 13q (LGMD2C), 17q (LGMD2D) and 4p-14-q21.2 (LGMD2E) respectively.
|
8899051 |
1996 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (alpha-, beta-, gamma-, delta-SG), dystrophin, beta-dystroglycan (beta-DG) and merosin.
|
8968750 |
1996 |
|
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 |
With regard to our unclassified AR LGMD families, analysis of the affected sibs from one of them (family LG61) revealed some clinical and laboratory findings (early involvement of the distal muscles, mildly elevated serum CK levels, and rimmed vacuoles in muscle biopsies) that usually are not observed in the analysis of patients with LGMD2A-LGMD2F.
|
9245996 |
1997 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Merosin immunocytochemistry was normal, and no abnormalities were detected on immunostaining for the various proteins known to be involved in the limb-girdle muscular dystrophies (alpha, beta, gamma, delta sarcoglycan and calpain 3).
|
9577386 |
1998 |
|
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 |
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 |
Biomarker
|
group |
BEFREE |
Two novel mechanisms may have to be postulated to explain the involvement of the calpain 3 and dysferlin genes in other forms of LGMD.
|
10430828 |
1999 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
These findings also suggest that calpain 3 deficiency occurs in both sporadic and familial LGMD and that direct analysis of the calpain 3 gene may be useful in the definitive diagnosis not only of the 15q-linked familial but also of sporadic cases of LGMD.
|
10567047 |
1999 |
|
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 |
BEFREE |
We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci of LGMD2A-F and protein studies using immunofluorescence and western blotting of the sarcoglycan complex.
|
10807695 |
2000 |
|
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 |
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 |
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 |
LGMD2A, the most prevalent form of LGMD, is caused by mutations in the calpain-3 gene (CAPN-3).
|
12461690 |
2002 |
|
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 |
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 |
Biomarker
|
group |
BEFREE |
By a preliminary immunoblot screening for calpain-3 protein of 548 unclassified patients with various phenotypes (LGMD, myopathy, or elevated levels of serum creatine kinase [hyperCKemia]), we selected 208 cases for CAPN3 gene mutation analysis: 69 had protein deficiency and 139 had normal expression.
|
15221789 |
2004 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
LHGDN |
Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
|
15351423 |
2004 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Surprisingly, calpain 3 expression was undetectable in the patient with the severe limb-girdle muscular dystrophy, although the gene did not reveal any molecular alterations.
|
15531479 |
2004 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
|
15694138 |
2005 |