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Novel SPEG variant cause centronuclear myopathy in China

BACKGROUND: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due to its genetic diversity. Since the discovery of the SPEG gene and disease‐cau...

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Detalles Bibliográficos
Autores principales: Tang, Jia, Ma, Wei, Chen, Yangran, Jiang, Runze, Zeng, Qinlong, Tan, Jieliang, Jiang, Hongqing, Li, Qing, Zhang, Victor W., Wang, Jing, Tang, Hui, Luo, Liangping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031609/
https://www.ncbi.nlm.nih.gov/pubmed/31625632
http://dx.doi.org/10.1002/jcla.23054