Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber’s hereditary optic neuropathy

Leber’s hereditary optic neuropathy (LHON) refers to a group of mitochondrial diseases and is characterized by defects of the mitochondrial electron transport chain and decreased level of oxidative phosphorylation. The list of LHON primary mtDNA mutations is regularly updated. In this study, we desc...

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Bibliographic Details
Published in:	Biochemistry (Moscow) Vol. 81; no. 7; pp. 748 - 754
Main Authors:	Sheremet, N. L., Nevinitsyna, T. A., Zhorzholadze, N. V., Ronzina, I. A., Itkis, Y. S., Krylova, T. D., Tsygankova, P. G., Malakhova, V. A., Zakharova, E. Y., Tokarchuk, A. V., Panteleeva, A. A., Karger, E. M., Lyamzaev, K. G., Avetisov, S. E.
Format:	Journal Article
Language:	English
Published:	Moscow Pleiades Publishing 01.07.2016 Springer Springer Nature B.V
Subjects:	Adult Biochemistry Biomedical and Life Sciences Biomedicine Bioorganic Chemistry Blood Platelets - cytology Blood Platelets - metabolism Cells, Cultured DNA, Mitochondrial - genetics Female Fibroblasts - cytology Fibroblasts - metabolism High-Throughput Nucleotide Sequencing Humans Life Sciences Male Microbiology Mutation NADH Dehydrogenase - genetics NADH Dehydrogenase - metabolism Optic Atrophy, Hereditary, Leber - genetics Optic Atrophy, Hereditary, Leber - pathology Oxygen Consumption - drug effects Paraquat Pathogens Polymorphism, Single Nucleotide Reactive Oxygen Species - metabolism Rotenone - pharmacology Sequence Analysis, DNA Young Adult mtDNA mutations fibroblasts Leber’s hereditary optic neuropathy respiratory chain complex I
ISSN:	0006-2979, 1608-3040
Online Access:	Get full text
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