|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
In the blinded study, five NMD cases with potential muscular dystrophy that showed complete absence of both bands in retrospect exhibited clinical features of limb girdle muscular dystrophy 2A (LGMD2A).
|
22825607 |
2012 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
|
22443334 |
2012 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Because ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a generalizable clinical diagnostic tool by assessing the targeting efficiency and sequencing coverage of 88 genes associated with muscle disease (MD) and spastic paraplegia (SPG).
|
22311686 |
2012 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Human muscle biopsy specimens obtained from patients with limb girdle muscular dystrophy (LGMD) caused by mutations in dysferlin (LGMD2B) and calpain3 (LGMD2A) were investigated for ahnak expression and localization.
|
22057634 |
2011 |
|
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 |
Biomarker
|
group |
BEFREE |
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
|
20634290 |
2010 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Our study suggests that LGMD2A is the most frequent form of LGMD in India, similar to the Western data, thus, highlighting the importance of immunoblotting for an accurate diagnosis.
|
20739790 |
2010 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A total of 550 muscle biopsies underwent multiple protein screening (including calpain-3 functional assay) and extensive gene mutation analysis to examine the frequency of LGMD subtypes in patients with distinct clinical phenotypes (severe childhood-onset LGMD, adult-onset LGMD, distoproximal myopathy, and asymptomatic hyperCKemia).
|
19380703 |
2009 |
|
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 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
|
18563459 |
2008 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Thirteen years ago it was discovered that mutations in calpain 3 (CAPN3) result in an autosomal recessive and progressive form of limb girdle muscular dystrophy called limb girdle muscular dystrophy type 2A.
|
18974005 |
2008 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
AlteredExpression
|
group |
LHGDN |
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
|
17157502 |
2007 |
|
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 |
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 |
LHGDN |
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
|
16971480 |
2007 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
LHGDN |
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 |
LHGDN |
Among 35 patients with LGMD, four patients, who showed calpain 3 deficiency on western blot analysis, were analyzed in this study.
|
17596655 |
2007 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.
|
17596655 |
2007 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
LHGDN |
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
|
17318636 |
2007 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
AlteredExpression
|
group |
LHGDN |
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.
|
16290124 |
2006 |
|
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 |
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 (LGMD) has been linked to 15 chromosomal loci, 7 autosomal-dominant (LGMD1A to E) and 10 autosomal-recessive (LGMD2A to J).
|
17021404 |
2006 |
|
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 |
Biomarker
|
group |
BEFREE |
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
|
15694138 |
2005 |