Autonomic functions in patients with congenital myasthenic syndrome due to mutations in the acetylcholine receptor epsilon subunit

2017 ◽  
Vol 21 ◽  
pp. e56 ◽  
Author(s):  
Ceren Gunbey ◽  
Kutay Sel ◽  
Hakan Aykan ◽  
Bahadır Konuskan ◽  
Cagrı Temucin ◽  
...  
Keyword(s):  
Acetylcholine Receptor ◽  
Congenital Myasthenic Syndrome ◽  
Autonomic Functions ◽  
Epsilon Subunit ◽  
Myasthenic Syndrome

scholarly journals Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations

2011 ◽  
Vol 44 (2) ◽  
pp. 289-291 ◽  
Author(s):  
Menachem Sadeh ◽  
Xin-Ming Shen ◽  
Andrew G. Engel
Keyword(s):  
Beneficial Effect ◽  
Congenital Myasthenic Syndrome ◽  
Epsilon Subunit ◽  
Myasthenic Syndrome

P2.39 Mutation of alpha subunit of acetylcholine receptor causing slow-channel congenital myasthenic syndrome in a Thai family

2010 ◽  
Vol 20 (9-10) ◽  
pp. 630
Author(s):  
R. Witoonpanich ◽  
T. Pulkes ◽  
C. Dejthevaporn ◽  
P. Yodnopklao ◽  
P. Witoonpanich ◽  
...  
Keyword(s):  
Acetylcholine Receptor ◽  
Alpha Subunit ◽  
Congenital Myasthenic Syndrome ◽  
Slow Channel ◽  
Myasthenic Syndrome
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