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: Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA
Autor: Azevedo, Olga
Vilarinho, Laura
Almeida, Filipa
Ferreira, Francisco
Guardado, Joana
Ferreira, Mariana
Lourenço, António
Medeiros, Rosa
Almeida, João
Palavras-chave: Cardiomyopathy
Heart failure
Left ventricular
Doenças Genéticas
Issue Date: 2010
Editora: Karger
Citação: Cardiology. 2010;115(1):71-4. Epub 2009 Oct 27
Resumo: Cardiomyopathy is a manifestation of mitochondrial cytopathies, but rarely constitutes the dominant feature, especially in adults. We report the case of a 59-year-old male with a personal and maternal history of diabetes and deafness, who presented with cardiomyopathy and kidney disease. We diagnosed the patient as having a mitochondrial cytopathy resulting from the 3243A>G mutation on the tRNALeu(UUR) gene in the mitochondrial DNA. The family history, broad spectrum of clinical manifestations and fluctuant clinical course provided clues to the diagnosis. We discuss the possible mechanisms underlying the phenotypic variability and fluctuant clinical course of mitochondrial disorders and the potential usefulness of coenzyme Q10 and L-carnitine in 3243A>G mutation patients.
Arbitragem científica: yes
ISSN: 0008-6312
Versão do Editor:
Appears in Collections:DGH - Artigos em revistas internacionais

Files in This Item:

File Description SizeFormat
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