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Article

Myopathy and parkinsonism in phosphoglycerate kinase deficiency.

Muscle & nerve - 1 May 2010

Sotiriou Evangelia, Greene Paul, Krishna Sindu, Hirano Michio, DiMauro Salvatore

Abstract excerpt

A 25-year-old man with exertional myoglobinuria had no evidence of hemolytic anemia, but he had severe parkinsonism that was responsive to levodopa. Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the PGK1 gene identified the p.T378P mutation tha...

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Source

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Identifiers

PMID: 20151463
DOI: 10.1002/mus.21612
PMCID: PMC8285082

Genes

PGK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20151463-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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