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Article

A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation.

Acta neurologica Scandinavica - 1 Jul 2004

Mancuso M, Filosto M, Forli F, Rocchi A, Berrettini S, Siciliano G, Murri L

Abstract excerpt

We described a patient with progressive non-syndromic hearing loss (NSHL) harboring the A3243G mutation in the mitochondrial DNA (mtDNA). Muscle biopsy showed scattered ragged-red, cytochrome c oxidase negative fibers, whereas the biochemical analysis of the mitochondrial respiratory chain complexes was normal. Restriction fragment length polymorphism (RFLP) analysis showed A3243G mtDNA transition, present at...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15180810
DOI: 10.1111/j.1600-0404.2004.00254.x

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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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