Phosphoglycerate kinase deficiency: An adult myopathic form with a novel mutation

T. Hamano, Tatsuro Mutoh, H. Sugie, H. Koga, M. Kuriyama

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)


The authors report a 36-year-old man with exertional myoglobinuria and muscle cramp without hemolytic anemia or CNS symptoms. They found a deficiency of phosphoglycerate kinase (PGK) activity in muscle and erythrocytes and a 4-base pair deletion in exon 6 of the PGK gene. This mutation may cause a frameshift, yielding an abnormal stop codon in exon 6 by which a truncated PGK protein was produced. This phenotype is caused by a novel mutation of the PGK gene.

Original languageEnglish
Pages (from-to)1188-1190
Number of pages3
Issue number5
Publication statusPublished - 14-03-2000
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Clinical Neurology


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