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