Associated Papers
When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.
Mendpara V et al.
Cureus, 2023
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Ben Ammar A et al.
Journal of Neurology, 2010
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
Schara U et al.
Neuromuscular Disorders : Nmd, 2009
Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
Hamuro J et al.
The Journal of Biological Chemistry, 2008
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Müller JS et al.
Brain : a Journal of Neurology, 2007
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