[Advances in the diagnosis and treatment of congenital myasthenic syndrome].

Abstract excerpt

Congenital myasthenic syndrome (CMS) is a group of clinical and genetic heterogeneous diseases caused by impaired neuromuscular transmission due to genetic defects. At present, it has been reported that more than 30 genes can cause CMS. All CMS subtypes have the clinical features of fatigue and muscle weakness, but age of onset, symptoms, and treatment response vary with the molecular mechanisms underlying...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Mutation
• Share to Myasthenic Syndromes, Congenital