Results 81 to 90 of about 2,557 (149)

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients

, 2016
Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed with myotonic dystrophy type
Morales Montero, Fernando, Estevez Povedano, Raúl, Push, Michael, Cuenca Berger, Patricia, Vindas Smith, Rebeca, Fiore, Michele, Vásquez Cerdas, Melissa, Lagostena, Laura, del Valle Carazo, Gerardo, Gaitán Peñas, Héctor   +9 more
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A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs

, 2019
Mutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. However, there are no reports of Hereditary Myotonia in pigs to date. Therefore, the objective of the present study was to characterize the
Araujo-Junior, J. P. [UNESP], McCue, M. E., Borges, A. S. [UNESP], Oliveira, C. M.C., Badial, P. R., Oliveira-Filho, J. P. [UNESP], Barbosa, J. D., Resende, L. A.L. [UNESP], Araújo, C. E.T. [UNESP]   +8 more
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Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene

, 2020
Hereditary myotonia (HM) is a genetic disorder that occurs due to mutations in the chloride channel and results in delayed relaxation of the skeletal muscles. HM has been described in 12 dog breeds, and in five of them, molecular studies of this disorder
Damasceno, Adilson Donizeti, Tavares de Araujo, Cesar Erineudo, Torelli, Sandra Regina, Oliveira-Filho, Jose Paes de [UNESP], Zanzarini Delfiol, Diego Jose, Borges, Alexandre Secorun [UNESP], Rodrigues, Daiane de Jesus [UNESP], Araujo-Junior, Joao Pessoa [UNESP], Hilario Fonseca, Luine Gabriela   +8 more
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Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Revista de Biología Tropical, 2008
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian, Mauricio Sittenfeld, Keith Johnson, Xi Lin, Tetsuo Ashizawa   +8 more
doaj  

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

The Application of Clinical Genetics, 2021
Jorge Andres Olave-Rodriguez,1 Francisco Javier Bonilla-Escobar,2– 4 Estephania Candelo,5,6 Lisa Ximena Rodriguez-Rojas1,7 1Universidad Icesi, Faculty of Health Sciences, Cali, Colombia; 2Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO ...
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX   +3 more
doaj  

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

, 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 ...
V.A. Sansone, F. Magri, N. Bresolin, S. Lucchiari, G.P. Comi, S. Corti, G. Ulzi   +6 more
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Toe walking in children with variants in myopathy-associated genes: A retrospective descriptive cohort study

Global Medical Genetics
Background: Tip-toe walking may occur in children carrying variants associated with, neuromuscular disorders, but characteristics of children carrying variants in selected, muscle-related genes remain insufficiently characterized.
David Pomarino, Amel Sidi Athmane, Bastian Fregien, Alexander Nazarkin, Kevin M. Rostásy   +4 more
doaj   +1 more source

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

, 1998
Autosomal-dominant and -recessive myotonia congenita are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1). We searched for mutations in this gene in 20 unrelated families with myotonia congenita.
Jentsch, T.J., Plassart-Schiess, E., Pouget, J., Eymard, B., Gervais, A., Warter, J.M., Fontaine, B., Lagueny, A., Fardeau, M.   +8 more
core  

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

, 1995
Autosomal dominant myotonia congenita and autoso-mal 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.
Klaus Steinmeyer, Koch, M.C., Jentsch, T.J., Steinmeyer, K., Thomas J. Jentsch, Ricker, K., Kenneth Ricker, Manuela C. Koch, Christof Meyer-kleine, Meyer-Kleine, C.   +9 more
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Myotonia congenita : novel mutations in CLCN1 gene and functional characterizations in Italian patients

, 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 ...
S.P. Corti, N. Bresolin, E. Wanke, G.P. Comi, V. Sansone, G. Meola, E. Corti, S. Pagliarani, E. Redaelli, G. D'Angelo, M. Raimondi, D. Saccomanno, S. Lucchiari, A. Modoni, M. Lecchi, G. Ulzi, F.M.B. Magri   +16 more
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