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

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

Abstract 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 th...

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Bibliographic Details
Main Authors: Tereza Danhelovska, Hana Kolarova, Jiri Zeman, Hana Hansikova, Manuela Vaneckova, Lukas Lambert, Vendula Kucerova-Vidrova, Kamila Berankova, Tomas Honzik, Marketa Tesarova
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Pediatrics
Subjects:
mtDNA
MT-ND genes
Complex I
Leigh syndrome
MELAS syndrome
MEGS
Online Access:https://doi.org/10.1186/s12887-020-1912-x

Internet

https://doi.org/10.1186/s12887-020-1912-x

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