Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity

Journal of the Neurological Sciences
K MonsieursLuc Heytens

Abstract

We report on three families with the Gly341Arg ryanodine receptor gene (RYR1) mutation. Thirteen individuals were heterozygote carriers of the Gly341Arg mutation and had clearly positive in vitro contracture tests, indicating malignant hyperthermia susceptibility. Nine Gly341Arg mutation positive individuals from two families had elevated serum creatine kinase (CK) activity at rest (up to six times the normal upper limit). Their clinical and neurological examinations as well as detailed muscle histology were normal. The third family did not show increased CK activity. These findings indicate that the Gly341Arg mutation can be a specific cause of chronically elevated serum CK activity in asymptomatic individuals.

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Citations

Mar 1, 2001·Journal of Clinical Neuromuscular Disease·B Katiriji, M M Al Jaberi
Jan 25, 2008·American Heart Journal·Margherita CapassoAntonino Uncini
Aug 19, 2006·Human Mutation·Rachel RobinsonPhilip Hopkins
Apr 3, 2008·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Steven K Baker, Imtiaz A Samjoo
Mar 2, 2017·Journal of Anesthesia·UNKNOWN Safety Committee of Japanese Society of Anesthesiologists
Jun 24, 2015·Anaesthesia and Intensive Care·L HeytensF Veyckemans
Sep 16, 1999·Annales Françaises D'anesthèsie Et De Rèanimation·V LaudenbachJ M Desmonts

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