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

• Main Authors: Tereza Danhelovska (Author), Hana Kolarova (Author), Jiri Zeman (Author), Hana Hansikova (Author), Manuela Vaneckova (Author), Lukas Lambert (Author), Vendula Kucerova-Vidrova (Author), Kamila Berankova (Author), Tomas Honzik (Author), Marketa Tesarova (Author)
• Format: Book
• Published: BMC, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...