Yixia Zhang Xinru Cheng Chenghan Luo Mengyuan Lei Fengxia Mao Zanyang Shi Wenjun Cao Jingdi Zhang Qian Zhang
10.3389/fped.2020.00185
Front Pediatr
2020 Apr 28;8:185.
chat mutation apnoea congenital myasthenic syndrome genetic diagnosis hemizygous
CC BY
https://pubmed.ncbi.nlm.nih.gov/32411636/
Case Reports
PMC7198756
32411636
Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation
2020