The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms.

Abstract excerpt

The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic-associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed. It is mutations in the genes encoding neuromuscular junction proteins AChR, RAPSN, and...

Topics

• Humans
• Myasthenic Syndromes, Congenital
• Phenotype
• Muscle Proteins
• Mutation
• Receptors, Cholinergic
• Neuromuscular Junction