Results 121 to 130 of about 1,941 (150)

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
openaire   +2 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

A “dystrophic” variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

Neurology, 2000
To identify the disease-causing mutation and its molecular consequence for a clinically distinct type of myotonic myopathy.The authors encountered a unique myotonic disorder of early onset in a 37-year-old man and his 47-year-old sister.After examining known loci of inherited myotonic disorders, the authors looked for mutations within the CLCN1 gene ...
S, Nagamitsu, T, Matsuura, M, Khajavi, R, Armstrong, C, Gooch, Y, Harati, T, Ashizawa   +6 more
openaire   +2 more sources

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
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

[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

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
openaire   +2 more sources

Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family

Neurology, 1997
Myotonia congenita is an inherited disorder of skeletal muscle membrane excitability that stems from diminished activity of the sarcolemmal voltage-gated chloride channel. The syndrome may be transmitted by either an autosomal dominant (Thomsen's disease) or recessive (recessive generalized myotonia, Becker's myotonia) mode of inheritance, [1] and the ...
K, Sloan Brown, A L, George
openaire   +2 more sources

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

Muscle & Nerve, 2012
AbstractWe describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign of myotonia on clinical evaluation or electromyography.
Juliana, Gurgel-Giannetti, Adriano S, Senkevics, Dinorah, Zilbersztajn-Gotlieb, Lydia U, Yamamoto, Viviane P, Muniz, Rita C M, Pavanello, Acary B, Oliveira, Mayana, Zatz, Mariz, Vainzof   +8 more
openaire   +2 more sources

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

American journal of human genetics, 1996
Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by the symptom of myotonia, which is based on an electrical instability of the muscle fiber membrane. Recently, these two phenotypes have been associated with mutations in the major muscle chloride channel gene CLCN1 on human ...
C, Meyer-Kleine, K, Steinmeyer, K, Ricker, T J, Jentsch, M C, Koch   +4 more
openaire   +1 more source