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Title: Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA
Author: Azevedo, Olga
Vilarinho, Laura
Almeida, Filipa
Ferreira, Francisco
Guardado, Joana
Ferreira, Mariana
Lourenço, António
Medeiros, Rosa
Almeida, João
Keywords: Cardiomyopathy
Heart failure
Left ventricular
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 review: yes
ISSN: 0008-6312
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Appears in Collections:DGH - Artigos em revistas internacionais

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