title: 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.affiliation: Department of Neurology, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: G M
authors.initials: GM
authors.lastname: Hadjigeorgiou
authors.forename: N
authors.initials: N
authors.lastname: Kawashima
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: C M
authors.initials: CM
authors.lastname: Sue
authors.forename: D J
authors.initials: DJ
authors.lastname: Rigden
authors.forename: A
authors.initials: A
authors.lastname: Kawashima
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D044383:Black People; D005260:Female; D006580:Genetic Carrier Screening; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000201:enzymology*; D020125:Mutation, Missense; D010375:Pedigree; D010736:Phosphoglycerate Mutase / Q000737:chemistry / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016415:Sequence Alignment; D044465:White People; D001741:Black or African American
chemical_list: D010736:Phosphoglycerate Mutase