Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1

Limb-girdle muscular dystrophy recessive 1 (LGMDR1), a rare subtype of muscular dystrophy, is characterized by progressive muscle weakness and degeneration with a predominant presentation on the shoulder, pelvic and proximal limb muscles. Variants in calcium-activated neutral proteinase 3 (CAPN3), w...

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Detalles Bibliográficos
Autores principales: Zhang, Cheng, Zheng, Xueping, Lu, Deguo, Xu, Lulu, Che, Fengyuan, Liu, Shiguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097764/
https://www.ncbi.nlm.nih.gov/pubmed/33899113
http://dx.doi.org/10.3892/mmr.2021.12119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097764/
https://www.ncbi.nlm.nih.gov/pubmed/33899113
http://dx.doi.org/10.3892/mmr.2021.12119

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