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Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the GNE gene. An estimated prevalence of 1~21/1,000,000 leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder. Although GNE, whi...

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Detalles Bibliográficos
Autores principales: Zhang, Kai‐Yue, Duan, Hui‐Qian, Li, Qiu‐Xiang, Luo, Yue‐Bei, Bi, Fang‐Fang, Huang, Kun, Yang, Huan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8581342/
https://www.ncbi.nlm.nih.gov/pubmed/34676965
http://dx.doi.org/10.1111/jcmm.16978