DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children

Mutations in DOK7 are a common cause of congenital myasthenia. Treatment with ephedrine or salbutamol is effective, but diagnosis is often delayed. The aim of our study was to find early clues to the diagnosis of DOK7 congenital myasthenic syndrome. We included 23 children of 20 families. Onset of s...

詳細記述

書誌詳細
主要な著者: Klein, A, Pitt, M, McHugh, J, Niks, E, Sewry, C, Phadke, R, Feng, L, Manzur, A, Tirupathi, S, DeVile, C, Jayawant, S, Finlayson, S, Palace, J, Muntoni, F, Beeson, D, Robb, SA
フォーマット: Journal article
言語:English
出版事項: 2013