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Article

Remodelling of skeletal muscle cells in children with SCO2 gene mutation - ultrastructural study.

Folia neuropathologica - 1 Jan 2009

Matyja Ewa, Pronicki Maciej, Kowalski Paweł, Czarnowska Elzbieta, Taybert Joanna

Abstract excerpt

Mitochondrial protein coded by the SCO2 gene is involved in the process of assembly of mitochondrial cytochrome c oxidase (COX). Progressive cardiomyopathy, neuropathy and lactic acidosis are presented by infants with SCO2 gene mutations. Only a dozen patients with this gene mutation have been reported in the literature. Muscle ultrastructure is mentioned only in a few case reports. The aim of this study was to...

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Source

Identifiers

PMID: 19353431

Genes

SCO2

Provenance

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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