title: Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy.
abstract: Muscle phosphoglycerate mutase deficiency results in a myopathic condition characterised by repeated cramps, possible myoglobinuria and muscle pain. We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia. Investigations of muscle biopsy tissue showed a residual PGaM activity in muscle due to a small amount of brain isoenzyme. The enzyme was also measured in blood cells and a full investigation of muscle metabolism was also carried out. Electron microscopy revealed mitochondria with similar morphological features in two patients investigated.
authors.affiliation: Department of Neuropathology, Midland Centre for Neurosurgery & Neurology, Smethwick, Birmingham, England.
authors.forename: K R
authors.initials: KR
authors.lastname: Poulton
authors.forename: A A
authors.initials: AA
authors.lastname: Khan
authors.forename: M L
authors.initials: ML
authors.lastname: Rossi
authors.forename: D
authors.initials: D
authors.lastname: Riddoch
mesh_terms: D000293:Adolescent; D001706:Biopsy; D001921:Brain / Q000201:enzymology*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005192:Family Health; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008931:Mitochondria, Muscle; D009132:Muscles / Q000166:cytology / Q000201:enzymology; D010375:Pedigree; D010736:Phosphoglycerate Mutase / Q000172:deficiency* / Q000378:metabolism*; D013053:Spectrophotometry
chemical_list: D007527:Isoenzymes; D010736:Phosphoglycerate Mutase