Article
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
Neurology India - 1 Jan 2000
Xi Jianying, Blandin Gaelle, Lu Jiahong, Luo Sushan, Zhu Wenhua, Béroud Christophe, Pécheux Christophe, Labelle Véronique, Lévy Nicolas, Urtizberea Jon Andoni, Zhao Chongbo, Krahn Martin
Abstract excerpt
BACKGROUND AND AIMS: 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. PATIENTS AND METHODS: A total of 36 unrelated Chinese patients with diagnostic suspicion of dysferlinopathy were clinically and genetically...
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