Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms
Article first published online: 14 JUN 2011
Copyright © 2011 Wiley Periodicals, Inc.
Muscle & Nerve
Volume 44, Issue 1, pages 102–108, July 2011
How to Cite
Duarte, S. T., Oliveira, J., Santos, R., Pereira, P., Barroso, C., Conceição, I. and Evangelista, T. (2011), Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. Muscle Nerve, 44: 102–108. doi: 10.1002/mus.22009
- Issue published online: 14 JUN 2011
- Article first published online: 14 JUN 2011
- Manuscript Accepted: 14 DEC 2010
- adult presentation;
- central core disease;
- malignant hyperthermia;
- multiminicore disease;
Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH).
Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and MmD with adult onset were also reviewed.
Eight patients fulfilled the criteria for further analysis. Five RYR1 mutations, 4 of them unreported, were detected in 3 patients. Compound heterozygosity was proven in 1 case.
To our knowledge, this is the only report of adult onset associated with recessive RYR1 mutations and central core/multiminicores on muscle biopsy. Although adult patients with CCD, MmD, and minimally symptomatic MH with abnormal muscle biopsy findings usually have a mild clinical course, differential diagnosis and carrier screening is crucial for prevention of potentially life-threatening reactions to general anesthesia. Muscle Nerve 44: 102–108, 2011