MR Findings in Leigh Syndrome with COX Deficiency and SURF-1 Mutations

  • 1 August 2002
    • journal article
    • research article
    • Vol. 23  (7) , 1095-1100
Abstract
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 differentiate them from other patients with LS (LS non-SURF-1 patients).

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