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Article

Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.

AJNR. American journal of neuroradiology - 1 Jan 2000

Rossi Andrea, Biancheri Roberta, Bruno Claudio, Di Rocco Maja, Calvi Angela, Pessagno Alice, Tortori-Donati Paolo

Abstract excerpt

Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the putamina,...

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Source

Open in PubMed Open full text

Identifiers

PMID: 12812953
PMCID: PMC8148997

Genes

SURF1

Provenance

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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