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: http://hdl.handle.net/10400.18/181

Title: Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA
Authors: Azevedo, Olga
Vilarinho, Laura
Almeida, Filipa
Ferreira, Francisco
Guardado, Joana
Ferreira, Mariana
Lourenço, António
Medeiros, Rosa
Almeida, João
Keywords: Cardiomyopathy
Heart failure
Left ventricular
Hypetrophy
Doenças Genéticas
Issue Date: 2010
Publisher: Karger
Citation: Cardiology. 2010;115(1):71-4. Epub 2009 Oct 27
Abstract: 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.
Peer Reviewed: yes
URI: http://hdl.handle.net/10400.18/181
ISSN: 0008-6312
Publisher version: http://content.karger.com/produktedb/produkte.asp?DOI=000252811&typ=pdf
Appears in Collections:DGH - Artigos em revistas internacionais

Files in This Item:

File Description SizeFormat
CARDIOMYOPATHY AND KIDNEY DISEASE .pdf3.91 MBAdobe PDFView/Open
Restrict Access. You can request a copy!
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

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

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde

Estamos no RCAAP Governo Português separator Ministério da Educação e Ciência   Fundação para a Ciência e a Tecnologia

Financiado por:

POS_C UE