Muscle phosphoglycerate mutase deficiency with tubular aggregates

Effect of dantrolene

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

Research output: Contribution to journalArticle

27 Citations (Scopus)

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 - 1999

Fingerprint

Dantrolene
Muscle Cramp
Contracture
Muscles
Calcium
Calcium-Transporting ATPases
Sarcoplasmic Reticulum
Exercise Test
Forearm
Exercise
Dimauro disease
Therapeutics

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Muscle phosphoglycerate mutase deficiency with tubular aggregates : Effect of dantrolene. / Vissing, John; Schmalbruch, Henning; Haller, Ronald G.; Clausen, Torben.

In: Annals of Neurology, Vol. 46, No. 2, 1999, p. 274-277.

Research output: Contribution to journalArticle

Vissing, John ; Schmalbruch, Henning ; Haller, Ronald G. ; Clausen, Torben. / Muscle phosphoglycerate mutase deficiency with tubular aggregates : Effect of dantrolene. In: Annals of Neurology. 1999 ; Vol. 46, No. 2. pp. 274-277.
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