Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction.

doi:10.1007/s10545-010-9085-7

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Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction.

Journal of inherited metabolic disease - 1 Dec 2010

Schreuder L T W, Nijhuis-van der Sanden M W G, de Hair A, Peters G, Wortmann S, Bok L A, Morava E

Abstract excerpt

Albuterol, a selective beta-adrenergic agonist, has been used experimentally in combination with exercise therapy in a few inherited neuromuscular disorders to increase muscle strength and muscle volume . We report on a 9-year-old boy with central core disease and mitochondrial dysfunction due to compound heterozygous RYR1 mutations receiving albuterol treatment for 1 year. Throughout the period of albuterol...

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