Early-onset parkinsonism linked to combined heterozygous mutations in PANK2 and PLA2G6: A case report

Autor:	Juan Li, Tieyu Wu, Tong Wu, Xianwen Chen, Yan Qin, Chuan Li
Rok vydání:	2021
Předmět:	Genetics Neurology business.industry Parkinsonism Medicine Neurology (clinical) Geriatrics and Gerontology Early onset parkinsonism business Compound heterozygosity PANK2 medicine.disease Gene
Zdroj:	Parkinsonism & Related Disorders. 93:71-73
ISSN:	1353-8020
DOI:	10.1016/j.parkreldis.2021.11.008
Popis:	Homozygous mutations as well as compound heterozygous mutations in PANK2 or PLA2G6 have been reported to bring about early-onset parkinsonism (EOP). However, EOP caused by joint heterozygous mutations of the two genes is unusual. Here, we report a case of complex heterozygous mutations involving both the PANK2 and PLA2G6 genes in a Chinese woman.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::77437f1f0d91b3a3f59beccd524077b0 https://doi.org/10.1016/j.parkreldis.2021.11.008 Zobrazit plný text záznamu Full Text from ScienceDirect