DOK7 Mutations in Congenital Myasthenic Syndromes

Abstract

Clinical and genetic data of 14 patients from 12 congenital myasthenic syndrome (CMS) kinships with mutations in the DOK (‘downstream-of-kinase’) 7 gene are presented by researchers from the Friedrich-Baur-Institute, Munich, Germany, and several other centers.

Keywords

• dok7 mutation
• congenital myasthenic syndrome
• limb-girdle myasthenia