A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure

• 主要な著者: Yanhua Shen (著者), Bo Wang (著者), Xia Zheng (著者), Wenwen Zhang (著者), Hailan Wu (著者), Mingyan Hei (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2020-04-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

This was a Chinese neonatal congenital myasthenic syndromes case caused by muscle skeletal receptor tyrosine kinase gene mutations, which have not been recorded in the Human Gene Mutation Database. The newborn girl had refractory respiratory failure from birth to death, and failed extubation seven t...