Article
Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.
BMC musculoskeletal disorders - 16 Feb 2024
Bardakov Sergey N, Titova Angelina A, Nikitin Sergey S, Nikitins Valentin, Sokolova Margarita O, Tsargush Vadim A, Yuhno Elena A, Vetrovoj Oleg V, Carlier Pierre G, Sofronova Yana V, Isaev Аrtur А, Deev Roman V
Abstract excerpt
BACKGROUND: Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once. CASE PRESENTATION: We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant. The disease...
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