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Title: Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms
Authors: Duarte, Sofia
Oliveira, Jorge
Santos, Rosário
Pereira, Pedro
Barroso, Cândida
Conceição, Isabel
Evangelista, Teresinha
Keywords: RYR1
Multiminicore Disease
Adult Presentation
Central Core Disease
Malignant Hyperthermia
Doenças Genéticas
Issue Date: Jul-2011
Publisher: Wiley-Blackwell
Citation: Muscle Nerve. 2011 Jul;44(1):102-8
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.
Peer review: yes
ISSN: 0148-639X
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Appears in Collections:DGH - Artigos em revistas internacionais

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