Congenital Myasthenic Syndromes
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Publisher
Humana Press
Link
http://link.springer.com/content/pdf/10.1007/978-1-59745-156-7_15.pdf
Reference75 articles.
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3. Beeson D, Hantai D, Lochmuller H, Engel AG. 126th International Workshop: Congenital Myasthenic Syndromes, 24–26 September 2004, Naaden, the Netheralnds. Neuromuscul Disord 2005;15:498–512.
4. Ohno K, Engel AG. Congenital myasthenic syndromes: gene mutations. Neuromuscul Disord. 2004;14:117–22.
5. Ohno K, Tsujino A, Brengman JM, et al. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A. 2001;98:2017–22.
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1. Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia;Human Molecular Genetics;2020-06-16
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