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Article

Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families.

Journal of the neurological sciences - 15 Dec 2002

Puomila Anu, Viitanen Tommi, Savontaus Marja Liisa, Nikoskelainen Eeva, Huoponen Kirsi

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is an ocular disease associated with mutations in the mitochondrial DNA (mtDNA). The level of heteroplasmy in the mtDNA mutations ND4/11778 and ND1/3460 was followed over a period of 4-12 years in blood samples taken from nine members of four heteroplasmic LHON families. In addition, hair follicle and urinary tract epithelium samples of one individual were studied. The...

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Identifiers

PMID: 12409182
DOI: 10.1016/s0022-510x(02)00276-9

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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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