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Article

Inherited mitochondrial DNA depletion.

Pediatric research - 1 Aug 2003

Elpeleg Orly

Abstract excerpt

Mitochondrial DNA (mtDNA) depletion is associated with heterogeneous clinical phenotypes. The recent identification of the mutated genes in three groups of patients with mtDNA depletion had underscored the importance of the synthetic pathway of the mitochondrial nucleotides for mtDNA replication. Future goals include understanding how the defective proteins perturb replication, why it affects only some tissues...

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Identifiers

PMID: 12736387
DOI: 10.1203/01.PDR.0000072796.25097.A5

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Source receipt: pubmed, retrieved 7 Sept 2026.

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