Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea

• Main Authors: Zhimei Liu (Author), Li Zhang (Author), Danmin Shen (Author), Changhong Ding (Author), Xinying Yang (Author), Weihua Zhang (Author), Jiuwei Li (Author), Jie Deng (Author), Shuai Gong (Author), Jun Liu (Author), Suyun Qian (Author), Fang Fang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Congenital myasthenic syndromes (CMSs) are a group of inherited disorders caused by genetic defects in neuromuscular junctions. Mutations in CHAT, encoding choline acetyltransferase, cause congenital myasthenic syndrome with episodic apnea (CMS-EA), a rare autosomal recessive disease characterized b...