Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Artigos em revistas internacionais >

Please use this identifier to cite or link to this item:

Título: Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms
Autor: Duarte, Sofia
Oliveira, Jorge
Santos, Rosário
Pereira, Pedro
Barroso, Cândida
Conceição, Isabel
Evangelista, Teresinha
Palavras-chave: RYR1
Multiminicore Disease
Adult Presentation
Central Core Disease
Malignant Hyperthermia
Doenças Genéticas
Issue Date: Jul-2011
Editora: Wiley-Blackwell
Citação: Muscle Nerve. 2011 Jul;44(1):102-8
Resumo: 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.
Arbitragem científica: yes
ISSN: 0148-639X
Versão do Editor:
Appears in Collections:DGH - Artigos em revistas internacionais

Files in This Item:

File Description SizeFormat
RYR1_2011.pdf361,35 kBAdobe PDFView/Open
Restrict Access. You can request a copy!

Please give feedback about this item
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.


  © 2010 - Todos os direitos reservados | Feedback Ministério da Saúde
Promotores do RCAAP   Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência PO Sociedade do Conhecimento (POSC) Portal oficial da União Europeia