Congenital Myasthenic Syndrome with Agrin Mutations

Abstract

Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a distal myopathy.

Keywords

• neurology
• pediatrics
• child development
• nervous system diseases
• brain diseases