Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report

Abstract Background Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene are known genetic causes of this con...

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Autores principales: Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė, Aušra Morkūnienė, Violeta Mikštienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
Formato: article
Lenguaje:EN
Publicado: BMC 2021
Materias:
CAPN3
LGMDR1
cDNA assay
Splicing variant
Compound heterozygosity
Diseases of the musculoskeletal system
RC925-935
Acceso en línea:https://doaj.org/article/9fa109b82e7f4d818b1ad473453435d8
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https://doaj.org/article/9fa109b82e7f4d818b1ad473453435d8

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