A 42-year-old woman with 4H leukodystrophy caused by a homozygous mutation in POLR3A gene

Chin Med J (Engl). 2019 Aug 5;132(15):1879-1880. doi: 10.1097/CM9.0000000000000328.

Authors

Yi-Ming Yang^{1

2}, Zhong-Min Zhao^{2

3}, Yan-Li Jia², Yang-Juan Jia², Ning Han², Jian-Hua Wang²

Affiliations

¹ Department of Graduate School, Hebei North University, Zhangjiakou, Hebei 075000, China.
² Department of Neurology, Hebei General Hospital, Shijiazhuang, Hebei 050051, China.
³ Department of Graduate School, Hebei Medical University, Shijiazhuang, Hebei 050000, China.

Abstract

Supplemental Digital Content is available in the text

Publication types

Case Reports

MeSH terms

Adult
Demyelinating Diseases / etiology
Demyelinating Diseases / genetics*
Female
Hereditary Central Nervous System Demyelinating Diseases / genetics*
Humans
Mitochondrial Diseases / genetics*
Mutation / genetics
RNA Polymerase III / genetics*

Substances

POLR3A protein, human
RNA Polymerase III

Supplementary concepts

Leukodystrophy, Hypomyelinating, 4