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Article

Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.

Journal of inherited metabolic disease - 1 Oct 2001

Sugie H, Fukuda T, Ito M, Sugie Y, Kojoh T, Nonaka I

Abstract excerpt

We report the molecular genetic abnormalities of a patient with GSD IIId presenting with progressive myopathy and cardiopathy leading to a fatal outcome. We identified two independent deletions including a 4 bp deletion (117-1120) and a 98 bp deletion (1135-1232) in cDNA. Sequencing of the genomic DNA of the corresponding region revealed a 4 bp deletion in exon 10; however, the other 98 bp deletion corresponding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11757581
DOI: 10.1023/a:1012459625902

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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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