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