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

14 Feb 2019

Abstract excerpt

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 sarcoglycanopathies in Chinese patients is limited. The aims of this study were to investigate in detail the clinical...

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PMID: 30764848
DOI: 10.1186/s13023-019-1021-9

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