Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease
Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim o...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer
2018-01-01
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Series: | Chinese Medical Journal |
Subjects: | |
Online Access: | http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=4;spage=448;epage=453;aulast=Liu |