Results 161 to 170 of about 2,738 (205)

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

Journal of Molecular Neuroscience, 2021
Myotonia congenita is a genetic disease caused by mutations in the CLCN1 gene, which encodes for the major chloride skeletal channel ClC-1, involved in the normal repolarization of muscle action potentials and consequent relaxation of the muscle after contraction. Two allelic forms are recognized, depending on the phenotype and the inheritance pattern:
Lucas Santos Souza, Priscila Calyjur, Antonio Fernando Ribeiro, Juliana Gurgel-Giannetti, Rita Cassia Mingroni Pavanello, Mayana Zatz, Mariz Vainzof   +6 more
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Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

Journal of Neurology, 1999
Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35, lead to recessive and dominant myotonia congenita. We report four novel mutations identified in this gene, after clinical, electromyographic, and genetic studies performed on 13 unrelated families.
C, de Diego, J, Gámez, E, Plassart-Schiess, A, Lasa, E, Del Río, C, Cervera, M, Baiget, P, Gallano, B, Fontaine   +8 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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1154 Skeletal muscle chloride channel gene (CLCN1) copy number variation can cause myotonia congenita

Journal of Neurology, Neurosurgery & Psychiatry, 2012
Myotonia Congenita (MC) is the commonest skeletal muscle channelopathy. It associates with recessive or dominant mutations in the chloride channel gene CLCN1. A significant number of patients from recessive pedigrees (14% in our series of 439 cases) only harbour a single recessive mutation despite full sequencing of CLCN1.
D Raja Rayan, A Haworth, R Sud, E Matthews, D Fialho, J Burge, S Portaro, A Toscano, M D Davis, M G Hanna   +9 more
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Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

Neurology, 1996
Myotonia, defined as delayed relaxation of muscle after contraction, is seen in a group of genetic disorders that includes autosomal dominant myotonia congenita (Thomsen's disease) and autosomal recessive myotonia congenita (Becker's disease). Both disorders are characterized electrophysiologically by increased excitability of muscle fibers, reflected ...
J, Zhang, A L, George, R C, Griggs, G T, Fouad, J, Roberts, H, Kwieciński, A M, Connolly, L J, Ptácek   +7 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