title: Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene.
abstract: A patient with muscle phosphoglycerate mutase deficiency (PGAMD) and exercise-induced muscle cramps had tubular aggregates in muscle and increased muscle Ca2+-adenosine triphosphatase and calcium content. Two ischemic forearm exercise tests induced contractures in the patient. On dantrolene treatment, the patient became asymptomatic, and the ischemic test was performed without contracture. These findings suggest that cramps in muscle PGAMD are caused by a high calcium release from the sarcoplasmic reticulum relative to calcium re-uptake capacity.
authors.affiliation: Department of Neurology and Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Denmark.
authors.forename: J
authors.initials: J
authors.lastname: Vissing
authors.forename: H
authors.initials: H
authors.lastname: Schmalbruch
authors.forename: R G
authors.initials: RG
authors.lastname: Haller
authors.forename: T
authors.initials: T
authors.lastname: Clausen
mesh_terms: D000328:Adult; D003620:Dantrolene / Q000627:therapeutic use*; D015444:Exercise / Q000502:physiology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000378:metabolism* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000188:drug therapy* / Q000378:metabolism* / Q000503:physiopathology; D010736:Phosphoglycerate Mutase / Q000172:deficiency*
chemical_list: D010736:Phosphoglycerate Mutase; D003620:Dantrolene