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Article

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.

Archives of neurology - 1 May 2005

Mancuso Michelangelo, Ferraris Silvio, Pancrudo Jacklyn, Feigenbaum Annette, Raiman Julian, Christodoulou John, Thorburn David R, DiMauro Salvatore

Abstract excerpt

OBJECTIVE: To document novel homozygous mutations in the gene for deoxyguanosine kinase (DGK) in 3 children with mitochondrial DNA depletion. DESIGN: Clinical features included liver failure, hypotonia, and nystagmus in 2 siblings, and liver cirrhosis, optic dysplasia, nystagmus, and microcephaly...

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Identifiers

PMID: 15883261
DOI: 10.1001/archneur.62.5.745

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15883261-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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