scholarly journals An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X)

2005 ◽  
Vol 76 (7) ◽  
pp. 1039-1040 ◽  
Author(s):  
P Soltanzadeh
Keyword(s):  
Acetylcholine Receptor ◽  
Congenital Myasthenic Syndrome ◽  
Iranian Family ◽  
Myasthenic Syndrome

scholarly journals Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1

2013 ◽  
Vol 23 (6) ◽  
pp. 469-472 ◽  
Author(s):  
Keivan Basiri ◽  
Katsiaryna Belaya ◽  
Wei Wei Liu ◽  
Susan Maxwell ◽  
Maryam Sedghi ◽  
...  
Keyword(s):  
Clinical Features ◽  
Congenital Myasthenic Syndrome ◽  
Iranian Family ◽  
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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