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Article

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

Neuromuscular disorders : NMD - 1 Jun 2008

Bornstein Belén, Area Estela, Flanigan Kevin M, Ganesh Jaya, Jayakar Parul, Swoboda Kathryn J, Coku Jorida, Naini Ali, Shanske Sara, Tanji Kurenai, Hirano Michio, DiMauro Salvatore

Abstract excerpt

Mitochondrial DNA depletion syndrome (MDS) is characterized by a reduction in mtDNA copy number and has been associated with mutations in eight nuclear genes, including enzymes involved in mitochondrial nucleotide metabolism (POLG, TK2, DGUOK, SUCLA2, SUCLG1, PEO1) and MPV17. Recently, mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18504129
DOI: 10.1016/j.nmd.2008.04.006
PMCID: PMC3891825

Genes

DGUOK
MPV17
POLG
SUCLA2
SUCLG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18504129-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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