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Article

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.

Chinese medical journal - 20 Feb 2018

Liu Hua-Xu, Pu Chuan-Qiang, Shi Qiang, Zhang Yu-Tong, Ban Rui

Abstract excerpt

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 of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with...

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Identifiers

PMID: 29451150
DOI: 10.4103/0366-6999.225056
PMCID: PMC5830830

Genes

GAA

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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