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Article

Mitochondrial optic neuropathies.

Handbook of clinical neurology - 1 Jan 2023

Carelli Valerio, La Morgia Chiara, Yu-Wai-Man Patrick

Abstract excerpt

Mitochondrial optic neuropathies have a leading role in the field of mitochondrial medicine ever since 1988, when the first mutation in mitochondrial DNA was associated with Leber's hereditary optic neuropathy (LHON). Autosomal dominant optic atrophy (DOA) was subsequently associated in 2000 with mutations in the nuclear DNA affecting the OPA1 gene. LHON and DOA are both characterized by selective...

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PMID: 36813316
DOI: 10.1016/B978-0-12-821751-1.00010-5

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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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