Salbutamol as effective treatment in slow-channel syndrome- first report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s10072-020-04855-y.pdf
Reference5 articles.
1. Maggi L, Bernasconi P, D’amico A, Brugnoni R, Fiorillo C, Garibaldi M et al (2019) Italian recommendations for diagnosis and management of congenital myasthenic syndromes. Neurol Sci 40(3):557–568
2. Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN et al (1995) Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 15(1):229–239
3. Witoonpanich R, Pulkes T, Dejthevaporn C, Witoonpanich P, Yodnopklao P, Wetchaphanphesat S et al (2012) Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: correction. Neuromuscul Disord 22(5):478
4. Webster RG, Vanhaesebrouck AE, Maxwell SE, Cossins JA, Liu W, Ueta R et al (2020) Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia. Hum Mol Genet 29(14):2325–2336
5. Finlayson S, Spillane J, Kullmann DM, Howard R, Webster R, Palace J et al (2013) Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. Muscle Nerve 47:279–282
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