Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

1999 ◽  
Vol 246 (9) ◽  
pp. 825-829 ◽  
Author(s):  
C. de Diego ◽  
J. Gámez ◽  
E. Plassart-Schiess ◽  
A. Lasa ◽  
E. Del Río ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 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

scholarly journals A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

2013 ◽  
Vol 58 (9) ◽  
pp. 581-587 ◽  
Author(s):  
Raffaella Brugnoni ◽  
Dimos Kapetis ◽  
Paola Imbrici ◽  
Mauro Pessia ◽  
Eleonora Canioni ◽  
...  
Keyword(s):  
High Frequency ◽  
Large Cohort ◽  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 Gene ◽  
Mutation Region

scholarly journals Myotonia congenita: novel mutations in CLCN1 gene

Channels ◽  
2015 ◽  
Vol 9 (5) ◽  
pp. 292-298 ◽  
Author(s):  
Xiao-Li Liu ◽  
Xiao-Jun Huang ◽  
Jun-Yi Shen ◽  
Hai-Yan Zhou ◽  
Xing-Hua Luan ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 Gene

Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

2012 ◽  
Vol 318 (1-2) ◽  
pp. 65-71 ◽  
Author(s):  
Gianna Ulzi ◽  
Marzia Lecchi ◽  
Valeria Sansone ◽  
Elisa Redaelli ◽  
Eleonora Corti ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 Gene

A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

Neurology ◽  
2000 ◽  
Vol 55 (11) ◽  
pp. 1697-1703 ◽  
Author(s):  
S. Nagamitsu ◽  
T. Matsuura ◽  
M. Khajavi ◽  
R. Armstrong ◽  
C. Gooch ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 Gene

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita

2021 ◽  
Author(s):  
Lucas Santos Souza ◽  
Priscila Calyjur ◽  
Antonio Fernando Ribeiro ◽  
Juliana Gurgel-Giannetti ◽  
Rita Cassia Mingroni Pavanello ◽  
...  
Keyword(s):  
Consanguineous Family ◽  
Myotonia Congenita ◽  
Clcn1 Gene

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
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