Article
New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients.
Chinese medical journal - 5 Jul 2015
Lin Feng, Wang Zhi-Qiang, Lin Min-Ting, Murong Shen-Xing, Wang Ning
Abstract excerpt
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD), a common autosomal dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The complicated genotype-phenotype correlation among different ethnic population remains a controversial subject. We aimed to refine this correlation in order to provide new information for genetic counseling. METHODS: Here, a cohort of 136 Chinese...
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