Muscle phosphoglycerate mutase deficiency with tubular aggregates: Effect of dantrolene

John Vissing, Henning Schmalbruch, Ronald G. Haller, Torben Clausen

Research output: Contribution to journalArticlepeer-review

27 Scopus citations

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 reuptake capacity.

Original languageEnglish (US)
Pages (from-to)274-277
Number of pages4
JournalAnnals of Neurology
Volume46
Issue number2
DOIs
StatePublished - Aug 23 1999

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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