A novel nonsense mutation in the TYMP gene causing MNGIE with multiple intracranial hemorrhages on brain MRI

Neurol Sci. 2021 May;42(5):2119-2122. doi: 10.1007/s10072-020-04904-6. Epub 2020 Nov 18.

Authors

Zheng Jiang^#¹, Bi Zhao^#¹, Hui-Fang Shang², Wei Song³

Affiliations

¹ Department of Neurology, West China Hospital, Sichuan University, Wai Nan Guo Xue Xiang 37#, Chengdu, 610041, Sichuan, China.
² Department of Neurology, West China Hospital, Sichuan University, Wai Nan Guo Xue Xiang 37#, Chengdu, 610041, Sichuan, China. hfshang2002@126.com.
³ Department of Neurology, West China Hospital, Sichuan University, Wai Nan Guo Xue Xiang 37#, Chengdu, 610041, Sichuan, China. wchneuro_songwei@163.com.

^# Contributed equally.

PMID: 33210226
DOI: 10.1007/s10072-020-04904-6

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Brain / diagnostic imaging
Codon, Nonsense*
Female
Humans
Intracranial Hemorrhages / diagnostic imaging
Intracranial Hemorrhages / genetics
Magnetic Resonance Imaging
Mitochondrial Encephalomyopathies*
Mutation / genetics
Thymidine Phosphorylase* / genetics
Young Adult

Substances

Codon, Nonsense
TYMP protein, human
Thymidine Phosphorylase