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Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

BACKGROUND: Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD genes. Knowledge about the clinical and genetic features of sarcoglycanopath...

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Detalles Bibliográficos
Autores principales:	Xie, Zhiying, Hou, Yue, Yu, Meng, Liu, Yilin, Fan, Yanbin, Zhang, Wei, Wang, Zhaoxia, Xiong, Hui, Yuan, Yun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376703/ https://www.ncbi.nlm.nih.gov/pubmed/30764848 http://dx.doi.org/10.1186/s13023-019-1021-9

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