2 research outputs found
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy
International audienceDysferlinopathies 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
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy
International audienceDysferlinopathies 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