Publication: A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations
A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations
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Giarrana, M. L., Joset, P., Sticht, H., Robb, S., Steindl, K., Rauch, A., & Klein, A. (2015). A severe congenital myasthenic syndrome with “dropped head” caused by novel MUSK mutations. Muscle & Nerve, 52(4), 668–673. https://doi.org/10.1002/mus.24687
Abstract
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INTRODUCTION: Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling. METHODS: Clinical course and electrophysiological, pathological, and genetic findings were assessed. RESULTS: We describe the case of a boy with prenatal onset and severe respiratory symptoms with a persisting need for ventilation. The patient had severe bulbar s
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- Giarrana, Miriam L
- Joset, Pascal
- Sticht, Heinrich
- Robb, Stephanie
- Rauch, Anita
- Klein, Andrea
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Giarrana, M. L., Joset, P., Sticht, H., Robb, S., Steindl, K., Rauch, A., & Klein, A. (2015). A severe congenital myasthenic syndrome with “dropped head” caused by novel MUSK mutations. Muscle & Nerve, 52(4), 668–673. https://doi.org/10.1002/mus.24687
