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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...
Autores principales: | Danhelovska, Tereza, Kolarova, Hana, Zeman, Jiri, Hansikova, Hana, Vaneckova, Manuela, Lambert, Lukas, Kucerova-Vidrova, Vendula, Berankova, Kamila, Honzik, Tomas, Tesarova, Marketa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6988306/ https://www.ncbi.nlm.nih.gov/pubmed/31996177 http://dx.doi.org/10.1186/s12887-020-1912-x |
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