POLG gene mutation. Clinico-neuropathological study

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 f...

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Principais autores:	Sylwia Tarka, Milena Laure-Kamionowska, Teresa Wierzba-Bobrowicz, Katarzyna Witulska, Elżbieta Ciara, Krystyna Szymańska, Paweł Krajewski, Tomasz Stępień, Albert Acewicz, Paulina Felczak
格式:	Artigo
語言:	Inglês
出版:	Termedia Publishing House 2021-01-01
叢編:	Folia Neuropathologica
主題:	polg-mutation alpers-huttenlocher syndrome acute pancreatitis medial accessory olivary nuclei.
在線閱讀:	https://www.termedia.pl/POLG-gene-mutation-Clinico-neuropathological-study,20,42969,1,1.html
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