Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

• Main Authors: Javier A Muntadas (Author), Martin R Hyland (Author), Maria Del Rosario Ortolá Martínez (Author), Jaime N Young (Author), Jessica X Chong (Author), Michael J Bamshad (Author), Ricardo A. Maselli (Author)
• Format: Book
• Published: BMC, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is...