Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report

Abstract 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...

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Bibliographic Details
Main Authors: Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev
Format: Article
Language:English
Published: BMC 2024-02-01
Series:BMC Musculoskeletal Disorders
Subjects:
Contractures
DYSF
Dysferlinopathy
Limb-girdle muscle dystrophy R2
Spine rigidity
Online Access:https://doi.org/10.1186/s12891-024-07270-y

Internet

https://doi.org/10.1186/s12891-024-07270-y

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