Results 141 to 150 of about 10,028,553 (168)

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

Journal of Human Genetics, 2013
Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia) and caused by mutations in the chloride channel voltage-sensitive 1 (CLCN1) gene, encoding the voltage-gated chloride channel of ...
Jean-François Desaphy, Paola Imbrici, Nicole Kerlero de Rosbo   +2 more
exaly   +3 more sources

Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene.

Neuromuscular Disorders, 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
Daiane de Jesus Rodrigues, A. D. Damasceno, C. E. T. de Araújo, S. Torelli, Luine Gabriela Hilário Fonseca, D. J. Z. Delfiol, J. P. de Oliveira-Filho, J. P. Araújo-Junior, A. S. Borges   +8 more
semanticscholar   +2 more sources

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 ...
Stefania Corti, Giovanni Meola, Nereo Bresolin   +2 more
exaly   +3 more sources

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Identification of novel mutations of the CLCN1 gene for myotonia congenital in China

Neurological Research, 2016
Yan-Xin Meng, Zhe Zhao, Hong-rui Shen, Qi Bing, Jing Hu   +4 more
exaly   +2 more sources

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

Muscle and Nerve, 2012
Mariz Vainzof, Juliana Gurgel-Giannetti, Mayana Zatz   +2 more
exaly   +2 more sources

A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony [PDF]

Neuromuscular Disorders, 2012
A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans.
Cord Drögemüller, Walter Grünberg, Francesco Pascoli   +2 more
exaly   +3 more sources

Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of thomsen’s and becker’s myotonias in russian population

Russian Journal of Genetics, 2013
Elena A. Ivanova
exaly   +3 more sources

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia [PDF]

European Journal of Human Genetics, 2008
Contains fulltext : 69798.pdf (Publisher’s version ) (Closed access)Non-dystrophic myotonias (NDMs) are caused by mutations in CLCN1 or SCN4A.
Baziel van Engelen, Gea Drost, Jan B M Kuks   +2 more
exaly   +2 more sources

Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

Muscle and Nerve, 2010
Adel Shalata, Stavit A Shalev, Zvi U Borochowitz   +2 more
exaly   +2 more sources

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

Journal of Molecular Neuroscience, 2021
L. Souza, P. Calyjur, A. F. Ribeiro, J. Gurgel-Giannetti, R. Pavanello, M. Zatz, M. Vainzof   +6 more
semanticscholar   +1 more source