Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms

Sofia T. Duarte, Jorge Oliveira, Rośrio Santos, Pedro Pereira, Cândida Barroso, Isabel Conceição, Teresinha Evangelista

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34 Citations (Scopus)

Abstract

Introduction: 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.

Original languageEnglish
Pages (from-to)102-108
Number of pages7
JournalMuscle and Nerve
Volume44
Issue number1
DOIs
Publication statusPublished - 2011

Keywords

  • Adult presentation
  • Central core disease
  • Malignant hyperthermia
  • Multiminicore disease
  • RYR1

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