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Article

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.

AJNR. American journal of neuroradiology - 1 Aug 2002

Farina Laura, Chiapparini Luisa, Uziel Graziella, Bugiani Marianna, Zeviani Massimo, Savoiardo Mario

Abstract excerpt

BACKGROUND AND PURPOSE: In a large number of patients with Leigh syndrome (LS) and cytochrome c oxidase (COX) deficiency, mutations of the SURF-1 gene were recently identified. The aim of the present study was to review the MR findings in patients with LS to verify if the genetically homogeneous patients with LS and SURF-1 mutations (LS SURF-1 patients) had a homogeneous MR pattern that could be used to...

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Identifiers

PMID: 12169463
PMCID: PMC8185719

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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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