• Media type: E-Article
  • Title: Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms
  • Contributor: Duarte, Sofia T.; Oliveira, Jorge; Santos, Rośrio; Pereira, Pedro; Barroso, Cândida; Conceição, Isabel; Evangelista, Teresinha
  • Published: Wiley, 2011
  • Published in: Muscle & Nerve, 44 (2011) 1, Seite 102-108
  • Language: English
  • DOI: 10.1002/mus.22009
  • ISSN: 1097-4598; 0148-639X
  • Origination:
  • Footnote:
  • Description: AbstractIntroduction:Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH).Methods: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.Results: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.Conclusions: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