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Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

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Xi, Jianying | Blandin, Gaëlle | Lu, Jiahong | Luo, Sushan | Zhu, Wenhua | Béroud, Christophe | Pécheux, Christophe | Labelle, Véronique | Lévy, Nicolas | Urtizberea, Jon Andoni | Zhao, Chongbo | Krahn, Martin | Pecheux, Christophe | Urtizberea, Jonandoni

Edité par CCSD ; Medknow Publications -

International audience. Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene. This study presents clinical features and the mutational spectrum in the largest cohort of Chinese patients analyzed to date.

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