scholarly journals Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

1995 ◽  
Vol 92 (3) ◽  
pp. 758-762 ◽  
Author(s):  
K. Ohno ◽  
D. O. Hutchinson ◽  
M. Milone ◽  
J. M. Brengman ◽  
C. Bouzat ◽  
...  
Keyword(s):  
Acetylcholine Receptor ◽  
Congenital Myasthenic Syndrome ◽  
Epsilon Subunit ◽  
Myasthenic Syndrome ◽  
Acetylcholine Receptor Channel ◽  
Receptor Channel

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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