Liewluck T, Selcen D, Engel AG. Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve. 2011;44(5):789-794.
Engel AG, Shen XM, Selcen D, Sine SM. Congenitalmyasthenic syndromes: Pathogenesis, diagnosis, and treatment. Lancet Neurol. 2015;14 (5):461.
Evangelista T, Hanna M, Lochmuller H. Congenitalmyasthenic syndromes with predominant limb girdle weakness. J Neuromuscul Dis. 2015;2(suppl 2):S21-S29.
Mahjneh I, Lochmuller H, Muntoni F, Abicht A. DOK7 limb-girdlemyasthenic syndrome mimicking congenital muscular dystrophy. Neuromuscul Disord. 2013;23(1):36-42.
Srour M, Bolduc V, Guergueltcheva V, et al. DOK7 mutations presenting as a proximalmyopathy in French Canadians. Neuromuscul Disord. 2010;20 (7):453-457.
Klein A, Pitt MC, McHugh JC, et al. DOK7 congenitalmyasthenic syndrome in childhood: Early diagnostic clues in 23 children. Neuromuscul Disord. 2013;23(11):883-891.
Witting N, Vissing J. Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome. JAMA Neurol. 2014;71(3): 350-354.
Rodriguez Cruz PM, Palace J, Ramjattan H, Jayawant S, Robb SA, Beeson D. Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes. Neurology. 2015;85(12): 1043-1047.
