Article
[Genotypic and clinical features of spinal muscular atrophy type 3].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2012
Wang Yan-yun, Feng Shan-wei, Cao Ji-qing, Yang Juan, Li Ya-qin, Li Jin, Zhang Cheng
Abstract excerpt
OBJECTIVE: To explore the genotypic and clinical features and laboratory examinations of spinal muscular atrophy type 3 (SMA III). METHODS: Results of genetic testing and laboratory exams of 18 SMA III patients were collected and analyzed. RESULTS: The average age of onset of patients was 6.1 years, with the course of disease lasting from 13 months to 28 years. All patients became symptomatic with lower extremity...
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