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

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 condition....

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Detalles Bibliográficos
Autores principales: Siavrienė, Evelina, Petraitytė, Gunda, Burnytė, Birutė, Morkūnienė, Aušra, Mikštienė, Violeta, Rančelis, Tautvydas, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8645139/
https://www.ncbi.nlm.nih.gov/pubmed/34863162
http://dx.doi.org/10.1186/s12891-021-04920-3

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