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Article

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

Mitochondrion - 1 Nov 2013

Pronicka Ewa, Piekutowska-Abramczuk Dorota, Szymańska-Dębińska Tamara, Bielecka Liliana, Kowalski Paweł, Luczak Sylwia, Karkucińska-Więckowska Agnieszka, Migdał Marek, Kubalska Jolanta, Zimowski Janusz, Jamroz Ewa, Wierzba Jolanta, Sykut-Cegielska Jolanta, Pronicki Maciej, Zaremba Jacek, Krajewska-Walasek Małgorzata

Abstract excerpt

The aim of this study was to assess the natural history of the SCO2 deficiency in relation to the genotype in a cohort of 62 patients with SCO2 mutations (36 this study, 26 previous reports). A novel, milder phenotype (disease onset delayed until one year after birth, nonspecific encephalomyopath...

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Source

Identifiers

PMID: 23719228
DOI: 10.1016/j.mito.2013.05.007

Genes

SCO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23719228-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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