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2003 | 44 | 4 | 529-538
Article title

Leber hereditary optic neuropathy ? a disease with a known molecular basis but a mysterious mechanism of pathology

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EN
Abstracts
EN
Leber hereditary optic neuropathy is a maternally inherited type of blindness caused by degeneration of the optic nerve. It is caused by point mutations in mitochondrial DNA. Like in other mitochondrial diseases, its penetrance and inheritance is complicated by heteroplasmy, tissue distribution, and the bottleneck phenomenon in oocyte maturation. On the cellular level, the mechanism of the disease development is still mysterious. Currently three theories of pathomechanism of LHON are considered: biochemical, ROS (reactive oxygen species) and apoptotic.
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Year
Volume
44
Issue
4
Pages
529-538
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Contributors
author
author
author
References
Document Type
REVIEW
Publication order reference
E. Bartnik, Department of Genetics, University of Warsaw, ul Pawinskiego 5a, 02-106 Warszawa, Poland
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YADDA identifier
bwmeta1.element.element-from-psjc-28d28a53-8992-315c-8d80-8ad20d214352
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