Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors

• Main Authors: Tay, Chee Geap, Fong, Choong Yi, Li, Limin, Ganesan, Vigneswari, Teh, Chee Ming, Gan, Chin Seng, Thong, Meow-Keong
• Format: Article
• Published: Elsevier Sci Ltd 2020
• Subjects: RJ Pediatrics
• Online Access: http://eprints.um.edu.my/36938/
• Institution: Universiti Malaya

Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia gravis (MG). We describe 2 childr...