A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.

doi:10.1016/j.ejpn.2009.09.008

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Article

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2010

Pronicki Maciej, Kowalski Paweł, Piekutowska-Abramczuk Dorota, Taybert Joanna, Karkucinska-Wieckowska Agnieszka, Szymanska-Debinska Tamara, Karczmarewicz Elzbieta, Pajdowska Magdalena, Migdal Marek, Milewska-Bobula Bogumila, Sykut-Cegielska Jolanta, Popowska Ewa

Abstract excerpt

UNLABELLED: Infants with deficiency of cytochrome c oxidase (COX) due to SCO2 mutations observed so far usually demonstrated early cardiomyopathy, encephalopathy and lactic acidosis. Milder spinal muscular atrophy-like (SMA-like) phenotype was also rarely reported. The aim is to present 18 Polish patients with SCO2 mutations. Molecular study revealed p.E140K mutation in all cases (on 32 alleles); p.Q53X mutation...

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Identifiers

PMID: 19879173
DOI: 10.1016/j.ejpn.2009.09.008

Genes

SCO2

Variants

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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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