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Article

Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.

European journal of neurology - 1 Jul 2023

Ardissone Anna, Ferrera Giulia, Lamperti Costanza, Tiranti Valeria, Ghezzi Daniele, Moroni Isabella, Lamantea Eleonora

Abstract excerpt

BACKGROUND AND PURPOSE: Mitochondrial diseases (MDs) are heterogeneous disorders caused by mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) associated with specific syndromes. However, especially in childhood, patients often display heterogeneity. Several reports on the biochemical and molecular profiles in children have been published, but studies tend not to differentiate between mtDNA- and...

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PMID: 37038312
DOI: 10.1111/ene.15814

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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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