Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity
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DOI: 10.1212/nxg.0000000000200155
Abstract: Background and Objectives Description of 15 patients with the same variant in DOK7 causing congenital myasthenic syndrome (CMS). Methods Nine adult and 6 pediatric patients were studied with molecular genetic and clinical investigations. Results All… read more here.
Keywords: homozygosity founder; variant 1508dupc; pediatric patients; severity ... See more keywords