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

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.

• Authors: G M Hadjigeorgiou, N Kawashima, C Bruno, A L Andreu, C M Sue, D J Rigden, A Kawashima, S Shanske, S DiMauro
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 9 Issue 6-7 Pg. 399-402 (Oct 1999) ISSN: 0960-8966 [Print] England
• PMID: 10545043 (Publication Type: Case Reports, Journal Article)

Chemical References

• Phosphoglycerate Mutase

Topics

• Amino Acid Sequence
• Amino Acid Substitution
• Asian People (genetics)
• Black People
• Female
• Genetic Carrier Screening
• Glycogen Storage Disease (enzymology, genetics)
• Humans
• Japan
• Male
• Middle Aged
• Molecular Sequence Data
• Muscle, Skeletal (enzymology)
• Mutation, Missense
• Pedigree
• Phosphoglycerate Mutase (chemistry, genetics)
• Polymerase Chain Reaction
• Sequence Alignment
• White People