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

Abstract : 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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https://hal-amu.archives-ouvertes.fr/hal-01681778
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Submitted on : Thursday, January 11, 2018 - 5:44:00 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:15 PM

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Jianying Xi, Gaëlle Blandin, Jiahong Lu, Sushan Luo, Wenhua Zhu, et al.. Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. Neurology India, Medknow Publications, 2014, 62 (6), pp.635-9. ⟨10.4103/0028-3886.149386⟩. ⟨hal-01681778⟩

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