Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene

Georgios M. Hadjigeorgiou, Noriko Kawashima, Claudio Bruno, Antonio L. Andreu, Carolyn M. Sue, Daniel J. Rigden, Atsushi Kawashima, Sara Shanske, Salvatore DiMauro

Research output: Contribution to journalArticle

Abstract

Muscle-specific phosphoglycerate mutase (PGAM-M) deficiency results in a metabolic myopathy (glycogenosis type X). Three mutations in the PGAM-M gene have been described thus far, two in African-American families and one in a Caucasian family. In two of them, manifesting heterozygotes were documented. We found a new PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A transition at nucleotide position 209, resulting in the substitution of a highly conserved glycine at codon 97 with aspartic acid (G97D). Two heterozygous family members for the G97D mutation presented with exercise intolerance and muscle cramps. We describe the first PGAM-M mutation in the Japanese population and confirm that heterozygous individuals can be symptomatic. Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)399-402
Number of pages4
JournalNeuromuscular Disorders
Volume9
Issue number6-7
DOIs
Publication statusPublished - Oct 1 1999

Keywords

  • heterozygotes
  • Japanese
  • phosphoglycerate mutase

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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    Hadjigeorgiou, G. M., Kawashima, N., Bruno, C., Andreu, A. L., Sue, C. M., Rigden, D. J., Kawashima, A., Shanske, S., & DiMauro, S. (1999). Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. Neuromuscular Disorders, 9(6-7), 399-402. https://doi.org/10.1016/S0960-8966(99)00039-5