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).

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

Zeviani, Massimo;
2002

Abstract

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).
2002
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3354461
Citazioni
  • ???jsp.display-item.citation.pmc??? 19
  • Scopus 95
  • ???jsp.display-item.citation.isi??? 78
social impact