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

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

Abstract 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 sarcogly...

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Bibliographic Details
Main Authors: Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong, Yun Yuan
Format: Article
Language:English
Published: BMC 2019-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Sarcoglycanopathies
Phenotype
Genotype
Sarcoglycan expression
Online Access:http://link.springer.com/article/10.1186/s13023-019-1021-9

Internet

http://link.springer.com/article/10.1186/s13023-019-1021-9

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