Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita

2010 ◽  
Vol 58 (5) ◽  
pp. 743 ◽  
Author(s):  
ZheFeng Yuan ◽  
CuiWei Yang ◽  
HaiFeng Li ◽  
ZheZhi Xia ◽  
QuanXiang Shui ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Gene Mutations ◽  
Myotonia Congenita ◽  
Chinese Families ◽  
Channel Gene

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

Neurology ◽  
1996 ◽  
Vol 47 (4) ◽  
pp. 993-998 ◽  
Author(s):  
J. Zhang ◽  
A. L. George ◽  
R. C. Griggs ◽  
G. T. Fouad ◽  
J. Roberts ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Chloride Channel ◽  
Human Skeletal Muscle ◽  
Myotonia Congenita ◽  
Channel Gene

scholarly journals Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

1999 ◽  
Vol 14 (5) ◽  
pp. 447-447 ◽  
Author(s):  
Raffaella Brugnoni ◽  
Stefania Galantini ◽  
Paolo Confalonieri ◽  
Maria Rosa Balestrini ◽  
Ferdinando Cornelio ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Chloride Channel ◽  
Human Skeletal Muscle ◽  
Novel Mutations ◽  
Myotonia Congenita ◽  
Channel Gene

P.P.2 06 ClC1 chloride channel gene mutations in myotonic dystrophy type 2 patients

2006 ◽  
Vol 16 (9-10) ◽  
pp. 672
Author(s):  
T. Suominen ◽  
O. Raheem ◽  
A. Vihola ◽  
H. Haapasalo ◽  
R. Krahe ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Chloride Channel ◽  
Gene Mutations ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2 ◽  
Channel Gene

Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita

Neurology ◽  
2000 ◽  
Vol 54 (4) ◽  
pp. 937-942 ◽  
Author(s):  
J. Zhang ◽  
S. Bendahhou ◽  
M. C. Sanguinetti ◽  
L. J. Ptacek
Keyword(s):  
Chloride Channel ◽  
Myotonia Congenita ◽  
Channel Gene ◽  
Functional Consequences
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