|
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 |
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 |
Biomarker
|
disease |
BEFREE |
These novel approaches may be clinically relevant not only for LGMDR1 but also for other muscular dystrophies with secondary calpainopathy or with abnormal Ca<sup>2+</sup> homeostasis, such as LGMD2B/LGMDR2 or sporadic inclusion body myositis.
|
31540302 |
2019 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
BEFREE |
Transplantation of gene-corrected LGMD2A myogenic progenitors in a novel mouse model combining immunodeficiency and a lack of CAPN3 resulted in muscle engraftment and rescue of the CAPN3 mRNA.
|
31501033 |
2019 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this manuscript, the case of a patient affected by LGMD2A is reported, for which the application of a defined custom designed NGS panel allowed to confirm the diagnosis of calpainopathy linked with two heterozygous variants in <i>CAPN3</i>, namely c.550delA and c.1813G>C.
|
31263448 |
2019 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
Biomarker
|
disease |
BEFREE |
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.
|
31776291 |
2019 |
|
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 |
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 |
We report two young siblings from Guinea-Bissau with recessive calpainopathy due to novel null homozygous c.1702Gdup mutation in CAPN3 gene.
|
30415788 |
2018 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Calpain-3 is abundant in skeletal muscle, where its mutation-induced loss of function causes limb-girdle muscular dystrophy type 2A.
|
30254072 |
2018 |
|
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 |
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 |
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 genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
|
27431290 |
2017 |
|
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 |
The identified homozygous interval contained CAPN3, the gene responsible for LGMD2 type A (LGMD2A).
|
28103310 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
CausalMutation
|
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
|
27447704 |
2017 |
|
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 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
GeneticVariation
|
disease |
CLINVAR |
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
|
28915917 |
2017 |
|
Limb-girdle muscular dystrophy type 2A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.
|
28403181 |
2017 |