Results 161 to 168 of about 10,028,553 (168)

Myotonia caused by mutations in the muscle chloride channel gene CLCN1

Human Mutation, 2002
Michael Pusch
exaly  

G.P.99 Molecular genetic diagnostics of myotonia congenita and analysis of the effects of mutations in the CLCN1 gene on the structure of the dimeric ClC1 chloride channel

, 2012
Lenka Fajkusová, J. Zı´dková, D. Páclová, J. Marek, S. Voháòka, M. Hermanová   +5 more
semanticscholar   +1 more source

41. Novel mutation in the CLCN1 gene causing myotonia congenita (Thomsen’s disease)

, 2009
K. Kumar, K. Ng, H. Vandebona, N. Laing, C. Sue   +4 more
semanticscholar   +1 more source

Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression†‡

Human Mutation, 2004
Nigel G Laing, Kristen L Nowak, Grigori Y Rychkov   +2 more
exaly  

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

Clinical Genetics, 2011
T Torbergsen, M van Ghelue
exaly  

Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients

Journal of Genetics, 2019
Carmen Palma Milla
exaly  

Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient

Neurogenetics, 2014
Charles D Kassardjian, Margherita Milone
exaly  

Novel CLCN1 mutations in Taiwanese patients with myotonia congenita

Journal of Neurology, 2004
Shuo-Bin Jou, Huichin Pan
exaly