Results 11 to 20 of about 2,450 (192)

Treatment of myotonia congenita with retigabine in mice. [PDF]

Exp Neurol, 2019
Patients with myotonia congenita suffer from muscle stiffness caused by muscle hyperexcitability. Although loss-of-function mutations in the ClC-1 muscle chloride channel have been known for 25 years to cause myotonia congenita, this discovery has led to little progress on development of therapy.
Dupont C, Denman KS, Hawash AA, Voss AA, Rich MM.   +4 more
europepmc   +8 more sources

Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. [PDF]

PLoS ONE, 2013
Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl(-)) channel CLC-1. Myotonia congenita can be inherited in an autosomal recessive (Becker type) or dominant (Thomsen type) fashion.
Ting-Ting Lee, Xiao-Dong Zhang, Chao-Chin Chuang, Jing-Jer Chen, Yi-An Chen, Shu-Ching Chen, Tsung-Yu Chen, Chih-Yung Tang   +7 more
doaj   +3 more sources

Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics. [PDF]

PLoS ONE, 2014
Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders.
Wei Cheng, Jing Tian, Jean-Marc Burgunder, Walter Hunziker, How-Lung Eng   +4 more
doaj   +2 more sources

Carbamazepine treatment of myotonia congenita in a cat [PDF]

Journal of Feline Medicine and Surgery Open Reports
Case summary A 2-year-old female intact domestic shorthair cat was referred to the neurology service at the Foster Hospital for Small Animals as a result of lifelong weakness, seizure-like episodes after excitement, muscle spasms, stiffness of the limbs ...
Genesis V Lopez Bonilla, Elizabeth Parsley, G Diane Shelton, Dominik Faissler   +3 more
doaj   +2 more sources

Anesthesia Experience in a Patient with Myotonia Congenita [PDF]

Bagcilar Medical Bulletin, 2019
Myotonia congenita (MC) was first described as a skeletal muscle disorder by Thomsen in 1876. As a result of the mutation of the chloride channel gene (CLCN1), which is on the 17th chromosome, patients suffer from muscle contractility and fatigue ...
Yeşim Cokay Abut, Serkan Şimşek, Seher Köse, Şenay Kırgezen, Kübra Bolat, Veysel Erden   +5 more
doaj   +2 more sources

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita [PDF]

Frontiers in Genetics
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1.
Sabrina Lucchiari, Francesco Fortunato, Giovanni Meola, Andrea Mignarri, Serena Pagliarani, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Dario Ronchi, Dario Ronchi   +10 more
doaj   +2 more sources

A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient [PDF]

BMC Neurology, 2018
Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to ...
Jing Miao, Xiao-jing Wei, Xue-mei Liu, Zhi-xia Kang, Yan-lu Gao, Xue-fan Yu   +5 more
doaj   +2 more sources

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation. [PDF]

PLoS ONE, 2020
Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4.
Chenyu Zhao, DongFang Tang, Hui Huang, Haiyan Tang, Yuan Yang, Min Yang, Yingying Luo, Huai Tao, Jianguang Tang, Xi Zhou, Xiaoliu Shi   +10 more
doaj   +2 more sources

Clinical and genetic characteristics of myotonia congenita in Chinese population [PDF]

Channels
Myotonia congenita (MC) is a rare hereditary muscle disease caused by variants in the CLCN1 gene. Currently, the correlation of phenotype-genotype is still uncertain between dominant-type Thomsen (TMC) and recessive-type Becker (BMC).
Yuting He, Yusen Qiu, Ying Xiong, Yu Shen, Kaiyan Jiang, Hancun Yi, Pengcheng Huang, Yu Zhu, Min Zhu, Meihong Zhou, Daojun Hong, Dandan Tan   +11 more
doaj   +2 more sources

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children. [PDF]

J Neuromuscul Dis, 2023
Komur, Mustafa/0000-0001-6453-7323; , Sanem/0000-0002-8719-0665; Oz Tuncer, Gokcen/0000-0002-4027-6330; Gul Mert, Gulen/0000-0002-1160-5617; Aydin, Seren/0000-0002-9092-4383; Tutuncu Toker, Rabia/0000-0002-3129-334X; Sanri, Aslihan/0000-0003-1898-0898 ...
Öz Tunçer G, Sanri A, Aydin S, Hergüner ÖM, Özgün N, Kömür M, İçağasioğlu DF, Toker RT, Yilmaz S, Arslan EA, Güngör M, Kutluk G, Erol İ, Mert GG, Polat BG, Aksoy A.   +15 more
europepmc   +2 more sources