Article
[Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2020
Wu Ruohao, Tang Wenting, Li Dongfang, Tang Danxia, Li Yu, Luo Xiangyang
Abstract excerpt
OBJECTIVE: To detect pathogenic variant of ARSA gene in an infant with late infantile metachromatic leukodystrophy (MLD). METHODS: The male proband had an onset of walking dysfunction and seizure at 28 months. Arylsulfatase A activity of his peripheral blood leucocytes was 26.9 nmol/mg.17h, and cranial MRI showed wild symmetrical demyelination. With genomic DNA extracted from his peripheral blood sample, all...
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