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

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

doi:10.1212/WNL.54.5.1188

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 journal › Article

26 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	1188-1190
Number of pages	3
Journal	Neurology
Volume	54
Issue number	5
DOIs	https://doi.org/10.1212/WNL.54.5.1188
Publication status	Published - 14-03-2000
Externally published	Yes

All Science Journal Classification (ASJC) codes

Clinical Neurology

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Hamano, T., Mutoh, T., Sugie, H., Koga, H., & Kuriyama, M. (2000). Phosphoglycerate kinase deficiency: An adult myopathic form with a novel mutation. Neurology, 54(5), 1188-1190. https://doi.org/10.1212/WNL.54.5.1188

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AU - Kuriyama, M.

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