@Article{Tarka2020,
journal="Folia Neuropathologica",
issn="1641-4640",
volume="58",
number="4",
year="2020",
title="POLG gene mutation. Clinico-neuropathological study",
abstract="We present a female patient with a mutation of the POLG gene (POLG DNA polymerase gamma, catalytic subunit; *174763) in which the clinical course suggested a mitochondrial disease, a neuropathological examination identified the syndrome more closely, and a genetic test confirmed the disease. Apart from the morphological lesions typical of Alpers-Huttenlocher syndrome, rarely observed symmetrical degenerative changes in the accessory olivary nuclei were found. It was unusual in the clinical course of the disease that pancreatitis was diagnosed before symptoms of liver failure appeared.",
author="Tarka, Sylwia
and Laure-Kamionowska, Milena
and Wierzba-Bobrowicz, Teresa
and Witulska, Katarzyna
and Ciara, Elżbieta
and Szymańska, Krystyna
and Krajewski, Paweł
and Stępień, Tomasz
and Acewicz, Albert
and Felczak, Paulina",
pages="386--392",
doi="10.5114/fn.2020.102441",
url="http://dx.doi.org/10.5114/fn.2020.102441"
}