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GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease

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 consanguineou...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Impact Journals 2020
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093195/ https://www.ncbi.nlm.nih.gov/pubmed/32126021 http://dx.doi.org/10.18632/aging.102879

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