Results 171 to 180 of about 3,195 (191)

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia

neurogenetics, 2017
Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes.
Maggi L., Ravaglia S., Farinato A., Brugnoni R., Altamura C., Imbrici P., Camerino D. C., Padovani A., Mantegazza R., Bernasconi P., Desaphy J. -F., Filosto M.   +11 more
openaire   +3 more sources

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

Neurology, 2000
To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1 that cause myotonia congenita.Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) channel.
J, Zhang, S, Bendahhou, M C, Sanguinetti, L J, Ptácek   +3 more
openaire   +2 more sources

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

Journal of the Neurological Sciences, 2012
Myotonia congenita is an autosomal dominantly or recessively inherited muscle disorder causing impaired muscle relaxation and variable degrees of permanent muscle weakness, abnormal currents linked to the chloride channel gene (CLCN1) encoding the chloride channel on skeletal muscle membrane.
G. Ulzi, M. Lecchi, V. Sansone, E. Redaelli, E. Corti, D. Saccomanno, S. Pagliarani, S.P. Corti, F.M.B. Magri, M. Raimondi, G. D'Angelo, A. Modoni, N. Bresolin, G. Meola, E. Wanke, G.P. Comi, S. Lucchiari   +16 more
openaire   +3 more sources

Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression

Biochemical and Biophysical Research Communications, 2006
Mutations in the CLCN1 gene frequently associate with myotonia congenita (MC). We have recently reported several CLCN1 mutants in Taiwanese patients. To further elucidate the correlation between the genotypes and phenotypes, in this study, we used Xenopus oocyte as a system to investigate the functional effects of these mutants.
Min-Jon, Lin, Tsai-Hong, You, Huichin, Pan, Kuang-Ming, Hsiao   +3 more
openaire   +2 more sources

Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.

Journal of physiology and pharmacology : an official journal of the Polish Physiological Society, 2013
Here we present the case of a 32-year-old female patient with myotonia congenita. She carried two mutations in the CLCN1 gene that encodes the chloride channel ClC-1: p.Phe167Leu, which was previously identified in several families, and p.Val536Leu, which has been previously reported but not yet characterized by electrophysiological investigations. The
S. Lucchiari, G. Ulzi, F. Magri, M. Bucchia, F. Corbetta, M. Servida, M. Moggio, G.P. Comi, M. Lecchi   +8 more
openaire   +2 more sources

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1

American Journal of Physiology-Cell Physiology, 2007
Transmembrane chloride ion conductance in skeletal muscle increases during early postnatal development. A transgenic mouse model of myotonic dystrophy type 1 (DM1) displays decreased sarcolemmal chloride conductance. Both effects result from modulation of chloride channel 1 (CLCN1) expression, but the respective contributions of transcriptional vs ...
John D, Lueck, Codrin, Lungu, Ami, Mankodi, Robert J, Osborne, Stephen L, Welle, Robert T, Dirksen, Charles A, Thornton   +6 more
openaire   +2 more sources

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease

Muscle & Nerve, 2010
AbstractWe investigated a 62‐year‐old man who had mild clinical features of myotonia congenita. He was found to have a novel heterozygous G‐to‐A nucleotide substitution at position 1652 in exon 15 of the CLCN1 gene. Clinicogenetic studies performed on his family revealed that his asymptomatic son also shared the mutation.
Kishore R, Kumar, Karl, Ng, Himesha, Vandebona, Mark R, Davis, Carolyn M, Sue   +4 more
openaire   +2 more sources

The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias

Russian Journal of Genetics, 2012
Thomsen's and Becker's diseases are the most prevalent nondystrophic myotonias. Their frequency varies, according to different sources, from 1 : 100 000 to 1 : 10 000. Thomsen's myotonia is autosomal dominant, and Becker's myotonia is autosomal recessive.
E A, Ivanova, E L, Dadali, V P, Fedotov, S A, Kurbatov, G E, Rudenskaia, T N, Proskokova, A V, Poliakov   +6 more
openaire   +2 more sources

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes

Journal of the Neurological Sciences, 2016
Non-dystrophic myotonias are caused by mutations of either the skeletal muscle chloride (CLCN1) or sodium channel (SCN4A) gene. They exhibit several distinct phenotypes, including myotonia congenita, paramyotonia congenita and sodium channel myotonia, and a genotype-phenotype correlation has been established.
Hideki, Kato, Yosuke, Kokunai, Carine, Dalle, Tomoya, Kubota, Yuta, Madokoro, Hiroyuki, Yuasa, Yuto, Uchida, Tomomasa, Ikeda, Hideki, Mochizuki, Sophie, Nicole, Bertrand, Fontaine, Masanori P, Takahashi, Shigehisa, Mitake   +12 more
openaire   +2 more sources

[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2013
To investigate chloride channel 1 (CLCN1) gene mutation and clinical features of 2 Chinese patients with myotonia congenita.Clinical data of a patient from a family affected with myotonia congenita in addition with a sporadic patient from Fujian province were analyzed.
Zhi-ting, Chen, Jin, He, Wan-jin, Chen, Sheng-gen, Chen, Ji-lan, Lin, Qin-yong, Ye, Hua-pin, Huang   +6 more
openaire   +1 more source