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

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...

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Detalhes bibliográficos
Publicado no:BMC Pediatr
Main Authors: Danhelovska, Tereza, Kolarova, Hana, Zeman, Jiri, Hansikova, Hana, Vaneckova, Manuela, Lambert, Lukas, Kucerova-Vidrova, Vendula, Berankova, Kamila, Honzik, Tomas, Tesarova, Marketa
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6988306/
https://ncbi.nlm.nih.gov/pubmed/31996177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-1912-x
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