Results 131 to 140 of about 2,226 (158)

Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.

Muscle & nerve, 2014
Myotonia congenita due to protein truncating CLCN1 mutations is associated with variable patterns of inheritance.Three family kindreds are described, all of whom possess protein truncating mutations (Y33X, fs503X, R894X). One lineage also has coexistent R894X, A313T, and A320V mutations.The Y33X mutation kinship has autosomal recessive inheritance and ...
Randal C, Richardson, Jack C, Tarleton, Thomas D, Bird, Sidney M, Gospe   +3 more
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Identification of novel mutations of theCLCN1gene for myotonia congenital in China

Neurological Research, 2016
The identification of disease-specific genetic and electrophysiological patterns for myotonia congenital (MC) could help clinicians apply in the findings of genetic studies to improve diagnosis. We examined the molecular, clinical, and histopathological characteristics of eight patients with MC.Optimization PCR was used to exclude myotonic dystrophies ...
Yan-Xin, Meng, Zhe, Zhao, Hong-Rui, Shen, Qi, Bing, Jing, Hu   +4 more
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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
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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
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A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris

Neuromuscular Disorders, 2012
Becker myotonia is a recessive muscle disease with prevalence of > 1:50,000. It is caused by markedly reduced function of the chloride channel encoded by CLCN1. We describe a Polish patient with severe myotonia, transient weakness, and muscle cramps who only responds to lidocaine.
Jerzy Marcinkowski, Daniel Zielonka, Stachowiak P   +2 more
exaly   +3 more sources

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

Molecular Biology Reports, 2014
Mutations in the chloride channel gene CLCN1 cause the allelic disorders Thomsen (dominant) and Becker (recessive) myotonia congenita (MC). The encoded protein, ClC-1, is the primary channel that mediates chloride (Cl-) conductance in skeletal muscle.
G. Ulzi, V.A. Sansone, F. Magri, S. Corti, N. Bresolin, G.P. Comi, S. Lucchiari   +6 more
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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
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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
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[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
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[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
To detect potential mutations of chloride channel l (CLCN1) gene in a family affected with myotonia congenita.Clinical data of the proband and her parents and brother was collected. The coding regions of the CLCN1 gene were subjected to PCR and Sanger sequencing.Two missense mutations (c.937G>A and c.1205C>T), which were respectively located within ...
Feng, Jing, Haijiang, Li, Dan, Yang, Tao, Chen, Yuexian, Liu, Lidan, Yu   +5 more
openaire   +1 more source