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Article

A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.

Journal of inherited metabolic disease - 1 Aug 1997

Kroos M A, Waitfield A E, Joosse M, Winchester B, Reuser A J, MacDermot K D

Abstract excerpt

A novel mutation, C118T, in exon 2 of the acid alpha-glucosidase gene has been found in an infant with glycogen storage disease type II. This mutation is predicted to result in protein truncation. The phenotype was that of the severe infantile form of the disorder with lack of motor development, but with eye regard, social smile and vocalization. The parents were heterozygous for C118T and belong to an Islamic...

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PMID: 9266392
DOI: 10.1023/a:1005394706622

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

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