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Article

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

Journal of musculoskeletal & neuronal interactions - 1 Sept 2021

Yan Hai-Yan, Xie Ya-Nan, Han Jing-Zhe, Song Xue-Qin

Abstract excerpt

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 diagnosed according to clinical manifestations, muscle biopsy, and immunohistochemistry. In addition, the DYSF gene of...

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Identifiers

PMID: 34465679
PMCID: PMC8426653

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