Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family

Neurol Sci. 2023 Apr;44(4):1451-1453. doi: 10.1007/s10072-022-06535-5. Epub 2022 Dec 20.

Authors

Fucheng Li¹, Ru Li¹, Yongling Zhang¹, Xiangyi Jing¹, Can Liao²

Affiliations

¹ Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
² Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Guangzhou, 510623, Guangdong, China. canliao6008@163.com.

PMID: 36538131
DOI: 10.1007/s10072-022-06535-5

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

East Asian People
Germ Cells
Germ-Line Mutation* / genetics
Humans
Mosaicism*
Pedigree
Sodium-Potassium-Exchanging ATPase* / genetics

Substances

ATP1A3 protein, human
Sodium-Potassium-Exchanging ATPase

Grants and funding

202102020061/Guangzhou Municipal Science and Technology Project