A Pediatric Case of <i>COLQ</i>-Related Congenital Myasthenic Syndrome with Marked Fatigue

• Hoofdauteurs: Takuya Horibe (Auteur), Hideki Shimomura (Auteur), Sachi Tokunaga (Auteur), Naoko Taniguchi (Auteur), Tomoko Lee (Auteur), Shigemi Kimura (Auteur), Yasuhiro Takeshima (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2023-04-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous inherited disorder that is treatable. Although the disease usually develops at birth or during infancy, some patients develop the disease in the second to third decades of life. Collagen-like tail subunit of asymmetri...