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Article

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.

BMC pediatrics - 29 Jan 2020

Danhelovska Tereza, Kolarova Hana, Zeman Jiri, Hansikova Hana, Vaneckova Manuela, Lambert Lukas, Kucerova-Vidrova Vendula, Berankova Kamila, Honzik Tomas, Tesarova Marketa

Abstract excerpt

BACKGROUND: Maternally inherited complex I deficiencies due to mutations in MT-ND genes represent a heterogeneous group of multisystem mitochondrial disorders (MD) with a unfavourable prognosis. The aim of the study was to characterize the impact of the mutations in MT-ND genes, including the novel m.13091 T > C variant, on the course of the disease, and to analyse the activities of respiratory chain complexes,...

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Identifiers

PMID: 31996177
DOI: 10.1186/s12887-020-1912-x
PMCID: PMC6988306

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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