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Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA

2010Journal article Restricted access
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dc.contributor.authorAzevedo, Olga
dc.contributor.authorVilarinho, Laura
dc.contributor.authorAlmeida, Filipa
dc.contributor.authorFerreira, Francisco
dc.contributor.authorGuardado, Joana
dc.contributor.authorFerreira, Mariana
dc.contributor.authorLourenço, António
dc.contributor.authorMedeiros, Rosa
dc.contributor.authorAlmeida, João
dc.date.accessioned2011-09-17T08:00:20Z
dc.date.available2011-09-17T08:00:20Z
dc.date.issued2010
dc.description.abstractCardiomyopathy 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.por
dc.identifier.citationCardiology. 2010;115(1):71-4. Epub 2009 Oct 27por
dc.identifier.issn0008-6312
dc.identifier.otherdoi:10.1159/000252811
dc.identifier.urihttp://hdl.handle.net/10400.18/181
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherKargerpor
dc.relation.publisherversionhttp://content.karger.com/produktedb/produkte.asp?DOI=000252811&typ=pdfpor
dc.subjectCardiomyopathypor
dc.subjectHeart failurepor
dc.subjectLeft ventricularpor
dc.subjectHypetrophypor
dc.subjectDoenças Genéticaspor
dc.titleCardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNApor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage74por
oaire.citation.startPage71por
oaire.citation.titleCardiologypor
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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