Congenital Myasthenic Syndrome (CMS) in Three European Kinships due to a Novel Splice Mutation (IVS7 - 2 A/G) in the Epsilon Acetylcholine Receptor (AChR) Subunit Gene

2002 ◽  
Vol 33 (5) ◽  
pp. 249-254 ◽  
Author(s):  
N. Barisic ◽  
C. Schmidt ◽  
O. P. Sidorova ◽  
A. Herczegfalvi ◽  
B. M. Gekht ◽  
...  
Keyword(s):  
Acetylcholine Receptor ◽  
Splice Mutation ◽  
Congenital Myasthenic Syndrome ◽  
Subunit Gene ◽  
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

Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel

1993 ◽  
Vol 34 (1) ◽  
pp. 38-47 ◽  
Author(s):  
Andrew G. Engel ◽  
Osvaldo D. Uchitel ◽  
Timothy J. Walls ◽  
Alexander Nagel ◽  
C. Michael Harper ◽  
...  
Keyword(s):  
Acetylcholine Receptor ◽  
Congenital Myasthenic Syndrome ◽  
Myasthenic Syndrome ◽  
Acetylcholine Receptor Channel ◽  
High Conductance ◽  
Receptor Channel
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