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Article

Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.

Biochemical and biophysical research communications - 18 Mar 2018

Maalej Marwa, Kammoun Thouraya, Alila-Fersi Olfa, Kharrat Marwa, Ammar Marwa, Felhi Rahma, Mkaouar-Rebai Emna, Keskes Leila, Hachicha Mongia, Fakhfakh Faiza

Abstract excerpt

Leigh syndrome (LS) is a rare progressive neurodegenerative disorder occurring in infancy. The most common clinical signs reported in LS are growth retardation, optic atrophy, ataxia, psychomotor retardation, dystonia, hypotonia, seizures and respiratory disorders. The paper reported a manifestation of 3 Tunisian patients presented with LS syndrome. The aim of this study is the MT[HYPHEN]ATP6 and SURF1 gene...

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Source

Identifiers

PMID: 29481804
DOI: 10.1016/j.bbrc.2018.02.169

Genes

SURF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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