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Article

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.

Biochimica et biophysica acta - 1 May 2009

Naess Karin, Freyer Christoph, Bruhn Helene, Wibom Rolf, Malm Gunilla, Nennesmo Inger, von Döbeln Ulrika, Larsson Nils-Göran

Abstract excerpt

Leigh syndrome is a common clinical manifestation in children with mitochondrial disease and other types of inborn errors of metabolism. We characterised clinical symptoms, prognosis, respiratory chain function and performed extensive genetic analysis of 25 Swedish children suffering from Leigh s...

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Source

Identifiers

PMID: 19103152
DOI: 10.1016/j.bbabio.2008.11.014

Genes

SURF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19103152-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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