|
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 |
Biomarker
|
disease |
BEFREE |
Our results determine that the sequencing of CAPN3 transcripts present in WBCs could be applied as a new approach for LGMD2A diagnosis.
|
18563459 |
2008 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3-5/LGMD2C-E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (<1%).
|
30919934 |
2019 |
|
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 |
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 |
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
|
27020652 |
2017 |
|
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 |
The identified homozygous interval contained CAPN3, the gene responsible for LGMD2 type A (LGMD2A).
|
28103310 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous family studies revealed a large number of calpain 3 ( CAPN3 ) mutations that cause recessive forms of limb girdle muscular dystrophy (LGMD2A) with selective atrophy of the proximal limb muscles.
|
15843148 |
2005 |
|
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 |
This series of 75 patients is probably the first confirmed cases of LGMD2A (calpainopathy) from India.
|
20739790 |
2010 |
|
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 |
All three patients exhibited a highly abnormal western blot for calpain-3 and clinical characteristics of LGMD2A.
|
18337726 |
2008 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
|
16141003 |
2005 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study provides further evidence for AD calpainopathy associated with CAPN3 c.643_663del21.
|
28881388 |
2018 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In a second branch of the family with a diagnosis of limb-girdle muscular dystrophy type 2A (LGMD2A) molecular studies revealed a homozygous 550 delta A mutation in the calcium-activated neutral protease 3 (calpain 3, CANP3) gene in the affected members.
|
8784805 |
1996 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The frequency of particular forms of LGMD2 was 32.6% for LGMD2A (71 probands), 4.1% for LGMD2I (9 probands), 2.8% for LGMD2D (6 probands), and 1.4% for LGMD2L (3 probands).Further, we present the first results of a new approach established in the Czech Republic for diagnosis of neuromuscular diseases: sequence capture and targeted resequencing.
|
25135358 |
2014 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
BEFREE |
Studies of LGMD2A and p94 suggest a novel molecular mechanism for muscular dystrophy, showing that a combined pathologic and biochemical approach is effective.
|
10639725 |
1999 |
|
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 |
These findings suggest that a peculiar pattern of focal degeneration occurs in calpainopathy, independently of the type of mutation or the amount of calpain 3 in the muscle.
|
12890817 |
2003 |
|
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 |
Our results delineate CAPN3 mutation-specific patterns of mitochondrial dysfunction and their ultrastructural characteristics in LGMD2A.
|
30500922 |
2019 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding muscle-specific calpain 3 protease cause limb girdle muscular dystrophy type 2A.
|
20580976 |
2010 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
BEFREE |
To gain insight into pathogenesis of aberrant muscle regeneration in LGMD2A, we used a paradigm of cardiotoxin (CTX)-induced cycles of muscle necrosis and regeneration in the CAPN3-KO mice to simulate the early features of the dystrophic process in LGMD2A.
|
29241457 |
2017 |