The congenital myasthenic syndromes
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology,Immunology,Immunology and Allergy
Reference22 articles.
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2. Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants;Barisic;Eur. J. Paed. Neurol.,2005
3. Dok-7 mutations underlie a neuromuscular junction synaptopathy;Beeson;Science,2006
4. Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita;Brownlow;J. Clin. Invest.,2001
5. Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes;Burke;Neurology,2003
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