Article
Hereditary Parkinson’s disease as a new clinical manifestation of the damaged POLG gene
Orvosi hetilap - 1 May 2020
Illés Anett, Balicza Péter, Gál Anikó, Pentelényi Klára, Csabán Dóra, Gézsi András, Molnár Viktor, Molnár Mária Judit
Abstract excerpt
The protein product of the nuclear-encoded POLG gene plays a key role in the maintenance of mitochondrial DNA replication, and its failure causes multi-system diseases with varying severity. The clinical spectrum is extremely wide, and the most common symptoms include ptosis, myoclonus, epilepsy, myopathy, sensory ataxia, parkinsonism, cognitive decline and infertility. Now, it is known that mitochondrial...
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