Article
[Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018
Liu Zhenjun, Liao Hong, Zhang Xuemei, Zhang Haixia, Liu Hongqian, Wang He, Liu Shanling
Abstract excerpt
OBJECTIVE: To analyze mutations of DYSF gene in two pedigrees affected with limb-girdle muscular dystrophy 2B (LGMD-2B). METHODS: Genomic DNA was extracted from peripheral blood samples of the two probands and unaffected family members. Variant sites were screened by next-generation sequencing using gene panel as well as Sanger sequencing. RESULTS: Four pathogenic mutations of the DYSF gene were detected, which...
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