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Article

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2009

Piekutowska-Abramczuk Dorota, Popowska Ewa, Pronicki Maciej, Karczmarewicz Elzbieta, Tylek-Lemanska Dorota, Sykut-Cegielska Jolanta, Szymanska-Dembinska Tamara, Bielecka Liliana, Krajewska-Walasek Malgorzata, Pronicka Ewa

Abstract excerpt

Leigh syndrome is a neuropathological disorder with typical morphological changes in brain, appearing regardless of diverse molecular background. One of the most common enzymatic defects in Leigh patients is cytochrome c oxidase deficiency associated with recessive mutations in the SURF1 gene. To assess the SURF1 mutation profile among Polish patients we studied 41 affected children from 34 unrelated families by...

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Source

Identifiers

PMID: 18583168
DOI: 10.1016/j.ejpn.2008.03.009

Genes

SURF1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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