Article
[Correlation between genotypes and phenotypes in pseudohypertrophic muscular dystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2012
Feng Shan-wei, Liang Ying-yin, Cao Ji-qing, Song Xin-ming, Zhang Cheng
Abstract excerpt
OBJECTIVE: To explore the correlation between genotypes and phenotypes in Chinese patients with pseudohypertrophic muscular dystrophy. METHODS: Patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) were diagnosed clinically. Multiplex ligation-dependent probe amplification (MLPA) were performed to detect potential DMD gene mutations. The results were analyzed statistically. RESULTS:...
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