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: J Vissing, H Schmalbruch, R G Haller, T Clausen
• Journal: Annals of neurology (Ann Neurol) Vol. 46 Issue 2 Pg. 274-7 (Aug 1999) ISSN: 0364-5134 [Print] United States
• PMID: 10443898 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Phosphoglycerate Mutase
• Dantrolene

Topics

• Adult
• Dantrolene (therapeutic use)
• Exercise (physiology)
• Humans
• Male
• Microscopy, Electron
• Muscles (metabolism, ultrastructure)
• Muscular Diseases (drug therapy, metabolism, physiopathology)
• Phosphoglycerate Mutase (deficiency)