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 language | English |
---|---|
Pages (from-to) | 399-402 |
Number of pages | 4 |
Journal | Neuromuscular Disorders |
Volume | 9 |
Issue number | 6-7 |
DOIs | |
Publication status | Published - Oct 1 1999 |
Keywords
- heterozygotes
- Japanese
- phosphoglycerate mutase
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology