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Article

Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background.

American journal of medical genetics. Part A - 1 Jun 2003

Howell Neil, Herrnstadt Corinna, Shults Cliff, Mackey David A

Abstract excerpt

The penetrance in Leber's hereditary optic neuropathy (LHON) pedigrees is determined primarily by a mutation in the mitochondrial genome (mtDNA), but secondary factors are also necessary for manifestation of the disorder. It has been proposed that mtDNA polymorphisms affect penetrance in LHON pedigrees. In particular, it has been postulated that one or more polymorphisms associated with European haplogroup J...

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Source

Identifiers

PMID: 12749053
DOI: 10.1002/ajmg.a.20135

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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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Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background.PMID 12749053Read ↗

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