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
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
Burke G et al.
Neuromuscular Disorders : Nmd, 2013
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
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
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
Selcen D et al.
Annals of Neurology, 2008
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