|
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 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Natural history of LGMD2A for delineating outcome measures in clinical trials.
|
27081656 |
2016 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
|
27234031 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
|
25079074 |
2014 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
|
22378277 |
2012 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
|
27500519 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
|
14578192 |
2003 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Screening of the CAPN3 gene in patients with possible LGMD2A.
|
16650086 |
2006 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
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 |
UNIPROT |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
|
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 |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
|
25326637 |
2014 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
|
27431290 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Crystal structure of calpain-3 penta-EF-hand (PEF) domain - a homodimerized PEF family member with calcium bound at the fifth EF-hand.
|
24846670 |
2014 |
|
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 |
CLINVAR |
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
|
14981715 |
2004 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
|
18337726 |
2008 |
|
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 |
CLINVAR |
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
|
26060040 |
2016 |
|
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 |