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Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families

Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases that are characterized by progressive muscle weakness. LGMD type 2A (LGMD2A), caused by variants in the calpain-3 (CAPN3) gene, is the most prevalent type. The present study aimed to analyze pathogenic CAPN3 gene variants...

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Detalles Bibliográficos
Autores principales: Zheng, Jie, Xu, Xiaowei, Zhang, Xinjie, Wang, Xuetao, Shu, Jianbo, Cai, Chunquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7739812/
https://www.ncbi.nlm.nih.gov/pubmed/33335567
http://dx.doi.org/10.3892/etm.2020.9536

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