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Neurology 2000;54:1188-1190
© 2000 American Academy of Neurology
Brief Communications

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

T. Hamano, MD, PhD, T. Mutoh, MD, PhD, H. Sugie, MD, PhD, H. Koga, MD, PhD and M. Kuriyama, MD, PhD

From the Second Department of Internal Medicine (Drs. Hamano, Mutoh, and Kuriyama), Division of Neurology, Faculty of Medicine, Fukui Medical University; the Department of Pediatric Neurology (Dr. Sugie), Hamamatsu City Medical Center for Developmental Medicine; and the Department of Neurology (Dr. Koga), Fujita Health University, Japan.

Address correspondence and reprint requests to Dr. Tatsuro Mutoh, The Second Department of Internal Medicine, Division of Neurology, Faculty of Medicine, Fukui Medical University, 23-Shimoaizuki, Matsuoka-cho, Fukui 910-1193, Japan; e-mail: mutoh{at}fmsrsa.fukui-med.ac.jp

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.

Key words: Phosphoglycerate kinase deficiency—Muscle cramp—PGK gene deletion.




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K. Shirakawa, Y. Takahashi, and H. Miyajima
Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing
Neurology, March 28, 2006; 66(6): 925 - 927.
[Abstract] [Full Text] [PDF]


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