scholarly journals Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita

2020 ◽  
Vol 11 ◽  
Author(s):  
Chung-Jiuan Jeng ◽  
Ssu-Ju Fu ◽  
Chia-Ying You ◽  
Yi-Jheng Peng ◽  
Cheng-Tsung Hsiao ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Myotonia Congenita ◽  
Molecular Pathophysiology

scholarly journals ClC-1 Chloride Channel Mutations in Myotonia Congenita: Variable Penetrance of Mutations Shifting the Voltage Dependence

1998 ◽  
Vol 7 (11) ◽  
pp. 1753-1760 ◽  
Author(s):  
C. Kubisch ◽  
T. Schmidt-Rose ◽  
B. Fontaine ◽  
A. H. Bretag ◽  
T. J. Jentsch
Keyword(s):  
Chloride Channel ◽  
Voltage Dependence ◽  
Myotonia Congenita ◽  
Variable Penetrance

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 Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

Neuron ◽  
1995 ◽  
Vol 15 (6) ◽  
pp. 1455-1463 ◽  
Author(s):  
Michael Pusch ◽  
Klaus Steinmeyer ◽  
Manuela C. Koch ◽  
Thomas J. Jentsch
Keyword(s):  
Chloride Channel ◽  
Voltage Dependence ◽  
Myotonia Congenita

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

Neurology ◽  
1998 ◽  
Vol 50 (4) ◽  
pp. 1176-1179 ◽  
Author(s):  
E. Plassart-Schiess ◽  
A. Gervais ◽  
B. Eymard ◽  
A. Lagueny ◽  
J. Pouget ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Incomplete Dominance ◽  
Myotonia Congenita

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

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
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