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Article

Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia.

Journal of human genetics - 1 Jan 2003

Nishioka Tomoki, Tasaki Mamoru, Soemantri Augustinus, Dyat Marbaniati, Susanto J C, Tamam Moedrik, Sudarmanto Bambang, Ishida Takafumi

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally inherited late-onset form of blindness characterized by acute or subacute bilateral retinal degradation resulting in a permanent loss of central vision. G11778A, C3460A, and T14484C mutations on mitochondrial DNA (mtDNA) are specific for LHON and account for most, but not all, worldwide LHON cases. A six-generation Indonesian LHON family with the T14484C...

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PMID: 12827453
DOI: 10.1007/s10038-003-0042-2

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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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