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Article

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction.

Trends in genetics : TIG - 1 May 2003

Carelli Valerio, Giordano Carla, d'Amati Giulia

Abstract excerpt

Here we define a category of human, maternally inherited disorders that are characterized by a homoplasmic mtDNA pathogenic mutation with variable penetrance and a stereotypical clinical expression, usually restricted to a single tissue. Examples of such disorders include Leber's hereditary optic neuropathy, mitochondrial non-syndromic sensorineural hearing loss, and a form of mitochondrial hypertrophic...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 12711217
DOI: 10.1016/S0168-9525(03)00072-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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