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Article

Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.

Human mutation - 1 Jan 1999

Raben N, Lee E, Lee L, Hirschhorn R, Plotz P H

Abstract excerpt

The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid alpha-glucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African American patients share a common nonsense R854X mutation in exon 18 (Becker et al., 1998). Two other mutations, D645E...

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Identifiers

PMID: 10189220
DOI: 10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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