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Article

A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy.

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Dec 2007

Mahjoub Sinda, Sternberg Damien, Boussaada Rafik, Filaut Sandrine, Gmira Fathi, Mechmech Rachid, Jardel Claude, Arab Saïda Ben

Abstract excerpt

We identified a novel heteroplasmic mitochondrial DNA (mtDNA) (m.4322dupC) mutation in tRNA gene associated with isolated dilated cardiomyopathy (DCM) as maternal trait. Mutation screening techniques and automated DNA sequencing were performed to identify mtDNA mutations and to assess heteroplasmy in family's proband and healthy control subjects. All family members tested had heteroplasmic mtDNA m.4322dupC...

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Identifiers

PMID: 18043288
DOI: 10.1097/PDM.0b013e3180cc313b

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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