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Article

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2023

Yang Haojun, Wu Zhongling, Li Xiaolei, Huang Yuanxin, Li Jing, He Fang, Feng Li, Xiao Bo, Tang Weiting

Abstract excerpt

BACKGROUND: POLR3-related leukodystrophy is a group of rare neurodegenerative disorders characterized by degeneration of the white matter with different combinations of major clinical features. CASE: An 18-year-old lady was admitted for no menstruation since childhood. She gradually developed slight symptoms, such as choking after drinking water and unsteady walking in the last 2 years. Furthermore, her test...

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Identifiers

PMID: 36988728
DOI: 10.1007/s10072-023-06767-z

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A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.PMID 36988728Read ↗

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