Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
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DOI: 10.1212/nxg.0000000000000152
Abstract: Objective: To identify the genetic cause in a patient affected by ptosis and exercise-induced muscle weakness and diagnosed with congenital myasthenic syndromes (CMS) using whole-genome sequencing (WGS). Methods: Candidate gene screening and WGS analysis were… read more here.
Keywords: intragenic dok7; whole genome; congenital myasthenic; deletion ... See more keywords