Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity | Neurology Genetics
Background and ObjectivesDescription of 15 patients with the same variant in DOK7 causing congenital myasthenic syndrome (CMS).MethodsNine adult and 6 pediatric patients were studied with molecular genetic and clinical investigations.ResultsAll patients …