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Article

The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease.

International heart journal - 31 Jan 2020

Li Jiaming, Cui Yinghua, Wang Xin, Wang Qinglei, Wang Hongjun, Yan Bo

Abstract excerpt

Pompe disease (PD) is a rare and fatal neuromuscular disease, which is an autosomal recessive disorder. This is the first study to report a case of the compound heterozygous c.1822C>T and c.2297A>C mutations of the GAA gene in mainland Chinese patient, which led to the classic infantile-onset Pompe disease (IOPD) characterized by hypertrophic cardiomyopathy. This case highlights that the detection of GAA activity...

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PMID: 31875618
DOI: 10.1536/ihj.19-241

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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