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Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report

Miyoshi myopathy (MM) is a rare autosomal recessive disorder caused by dysferlin (DYSF) gene mutation. Miyoshi myopathy-inducing mutation sites in the DYSF gene have been discovered worldwide. In the present study, a patient with progressive lower extremity weakness is reported, for which MM was dia...

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Detalles Bibliográficos
Autores principales: Yan, Hai-Yan, Xie, Ya-Nan, Han, Jing-Zhe, Song, Xue-Qin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Society of Musculoskeletal and Neuronal Interactions 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426653/
https://www.ncbi.nlm.nih.gov/pubmed/34465679