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Article

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Apr 2013

El-Hattab Ayman W, Scaglia Fernando

Abstract excerpt

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis (TK2,...

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Source

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Identifiers

PMID: 23385875
DOI: 10.1007/s13311-013-0177-6
PMCID: PMC3625391

Genes

DGUOK
POLG
SUCLA2
SUCLG1
TYMP
MPV17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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