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Article

Increased variation in mtDNA in patients with familial sensorineural hearing impairment.

Human genetics - 1 Aug 2003

Lehtonen Mervi S, Moilanen Jukka S, Majamaa Kari

Abstract excerpt

Analyses of mitochondrial DNA (mtDNA) sequences have revealed non-neutral patterns, suggesting that many amino acid mutations in animal mtDNA may be mildly deleterious, but this has not been verified in human clinical series. Since sensorineural hearing impairment (SNHI) is a common manifestation in many of the syndromes caused by mutations in mtDNA, this may be regarded as the phenotype of choice in attempts to...

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PMID: 12802679
DOI: 10.1007/s00439-003-0966-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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