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Article

A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

Archives of neurology - 1 Jun 2007

Spruijt Liesbeth, Smeets Hubert J, Hendrickx Alexandra, Bettink-Remeijer Marijke Wefers, Maat-Kievit A, Schoonderwoerd Kees C, Sluiter Wim, de Coo Ireneaus F, Hintzen Rogier Q

Abstract excerpt

OBJECTIVE: To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia. DESIGN: Leber hereditary optic neuropathy is a mitochondrial disorder characterized by isolated central visual loss. Of patients with LHON, 95% carry a mutation in 1 of 3 mitochondrial DNA-encoded complex I genes. The complete mitochondrial DNA was screened...

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Identifiers

PMID: 17562939
DOI: 10.1001/archneur.64.6.890

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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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