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

Jianying Xi , Gaëlle Blandin (1) , Jiahong Lu , Sushan Luo , Wenhua Zhu (2) , Christophe Béroud (1) , Christophe Pécheux , Véronique Labelle (3) , Nicolas Lévy (1) , Jon Andoni Urtizberea , Chongbo Zhao , Martin Krahn (1) , Christophe Pecheux , Jonandoni Urtizberea

1 GMGF - Génétique Médicale et Génomique Fonctionnelle
2 Roberval - Roberval
3 MOVE [Poitiers] - Laboratoire Mobilité, Vieillissement, Exercice

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.

Domaines: Génétique humaine; Biologie moléculaire

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, 2014, 62 (6), pp.635-9. ⟨10.4103/0028-3886.149386⟩. ⟨hal-01681778⟩