Article
POLG gene mutation. Clinico-neuropathological study.
Folia neuropathologica - 1 Jan 2020
Tarka Sylwia, Laure-Kamionowska Milena, Wierzba-Bobrowicz Teresa, Witulska Katarzyna, Ciara Elżbieta, Szymańska Krystyna, Krajewski Paweł, Stępień Tomasz, Acewicz Albert, Felczak Paulina
Abstract excerpt
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...
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