Article
GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.
Aging - 3 Mar 2020
Jia Xiaodong, Shao Libin, Liu Chengcheng, Chen Tuanzhi, Peng Ling, Cao Yinguang, Zhang Chuanchen, Yang Xiafeng, Zhang Guifeng, Gao Jianlu, Fan Guangyi, Gu Mingliang, Du Hongli, Xia Zhangyong
Abstract excerpt
Clinical manifestations of the late-onset adult Pompe disease (glycogen storage disease type II) are heterogeneous. To identify genetic defects of a special patient population with cerebrovascular involvement as the main symptom, we performed whole-genome sequencing (WGS) analysis on a consanguineous Chinese family of total eight members including two Pompe siblings both had cerebral infarction. Two novel...
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