Associated Papers
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
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
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J et al.
Human Molecular Genetics, 2012
Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
Jephson CG et al.
International Journal of Pediatric Otorhinolaryngology, 2010
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
Lashley D et al.
Neurology, 2010
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
Clinical features of the DOK7 neuromuscular junction synaptopathy.
Palace J et al.
Brain : a Journal of Neurology, 2007
Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Beeson D et al.
Science (new York, N.y.), 2006
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