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Article

[Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].

Postepy biochemii - 1 Jan 2008

Pronicka Ewa, Piekutowska-Abramczuk Dorota, Pronicki Maciej

Abstract excerpt

Mitochondrial diseases in children are more frequently caused by mutations in nuclear DNA then in mtDNA. Special clinical phenotypes are associated with the mutations in SURF1 gene, in SCO2 gene and with mtDNA depletion syndromes. Leigh syndrome is the most common clinical presentation of various mitochondrial disorders during childhood. Elevation of lactate in blood, cerebrospinal fluid and urine is a simple...

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Source

Identifiers

PMID: 18807927

Genes

SCO2
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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