Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita

1998 ◽  
Vol 11 (4) ◽  
pp. 331-331 ◽  
Author(s):  
F Sangiuolo ◽  
A Botta ◽  
A Mesoraca ◽  
S Servidei ◽  
L Merlini ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Myotonia Congenita ◽  
Channel Gene ◽  
New Mutations

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

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

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

Patients With Biallelic Mutations in the Chloride Channel Gene CLCNKB: Long-Term Management and Outcome

2007 ◽  
Vol 49 (1) ◽  
pp. 91-98 ◽  
Author(s):  
Alberto Bettinelli ◽  
Nicolò Borsa ◽  
Rosa Bellantuono ◽  
Marie-Louise Syrèn ◽  
Raffaele Calabrese ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Channel Gene ◽  
Biallelic Mutations ◽  
Term Management

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

scholarly journals A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

2018 ◽  
Vol 50 (3) ◽  
pp. 355-361 ◽  
Author(s):  
Fabio L. Fernandes-Rosa ◽  
Georgios Daniil ◽  
Ian J. Orozco ◽  
Corinna Göppner ◽  
Rami El Zein ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Primary Aldosteronism ◽  
Gain Of Function ◽  
Channel Gene
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