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Article

Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency.

Muscle & nerve - 1 Nov 2007

Svaasand Eva K, Aasly Jan, Landsem Veslemøy Malm, Klungland Helge

Abstract excerpt

The X-linked recessive disease phosphoglycerate kinase (PGK) deficiency is caused by altered expression of the PGK1 enzyme, which causes muscle stiffness, hemolytic anemia, and mental retardation. In this study we characterized the PGK1 gene in a family of two brothers, two sisters, and their parents. A single mutation in exon 6, which was associated with the pattern of inheritance of PGK1 deficiency, was...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17661373
DOI: 10.1002/mus.20859

Genes

PGK1

Variants

Provenance

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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