Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy - Aix-Marseille Université Access content directly
Journal Articles Neurology India Year : 2014

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

Jianying Xi
  • Function : Author
Jiahong Lu
  • Function : Author
Sushan Luo
  • Function : Author
Wenhua Zhu
  • Function : Author
  • PersonId : 990014
Christophe Pécheux
  • Function : Author
Jon Andoni Urtizberea
  • Function : Author
Chongbo Zhao
  • Function : Author
Christophe Pecheux
  • Function : Author
Jonandoni Urtizberea
  • Function : Author

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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hal-01681778 , version 1 (11-01-2018)

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