Results 161 to 170 of about 3,195 (191)

Novel CLCN1 Mutation in Carbamazepine-Responsive Myotonia Congenita

Pediatric Neurology, 2010
Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle hypertrophy. The disorder can be inherited in an autosomal-dominant (Thomsen disease) or autosomal-recessive (Becker disease) manner. Both forms of myotonia congenita are attributable to mutations in the CLCN1 gene. Treatment with a variety of medications
Lyons, MJ, Duron, R, Molinero, I, SANGIUOLO, FEDERICA CARLA, Holden, KR   +4 more
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Recessive CLCN1 mutation presenting as thomsen disease

Muscle & Nerve, 2008
AbstractThis case report describes a young man referred for electrodiagnostic evaluation for hand stiffness and intermittent numbness. His needle electromyography revealed diffusely increased insertional and spontaneous motor activity in the form of myotonic discharges.
Judy, Thomas, Jack, Tarleton, Steven K, Baker   +2 more
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Novel CLCN1 mutations in Taiwanese patients with myotonia congenita

Journal of Neurology, 2004
We have performed genetic screening on the skeletal muscle chloride channel gene (CLCN1) in Taiwanese population. A total of four patients with myotonia congenita (MC) together with 106 normal individuals were examined. All 23 exons of the CLCN1 gene were analysed by direct sequencing of PCR products to detect the nucleotide changes. Five mutations and
Shuo-Bin, Jou, Ling-I, Chang, Huichin, Pan, Pei-Ru, Chen, Kuang-Ming, Hsiao   +4 more
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Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia

Neurological Sciences, 2021
Myotonic disorders are a group of diseases affecting the muscle, in different ways. Myotonic dystrophy type 1 (DM1) is related to (CTG)n expansion in the 3-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene and is the most frequent and disabling form, causing muscular, visibility, respiratory, and cardiac impairment.
Locci, Sara, Cardani, Rosanna, Brunori, Paola, Lucchiari, Sabrina, Comi, Giacomo P, Federico, Antonio, De Stefano, Nicola, Meola, Giovanni, Mignarri, Andrea   +8 more
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Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients

Journal of Genetics, 2019
Myotonia congenita (MC) is a Mendelian inherited genetic disease caused by the mutations in the CLCN1 gene, encoding the main skeletal muscle ion chloride channel (ClC-1). The clinical diagnosis of MC should be suspected in patients presenting myotonia, warm-up phenomenon, a characteristic electromyographic pattern, and/or family history.
Carmen Palma Milla, Carmen Prior De Castro, Clara Gómez-González, Paloma Martínez-Montero, Samuel I. Pascual Pascual, Jesús Molano Mateos   +5 more
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Dosage Effect of a Dominant CLCN1 Mutation: A Novel Syndrome

Journal of Child Neurology, 2007
Multiple mutations in the CLCN1 gene coding for the voltage-gated chloride channel have been documented to cause myotonia congenita. We report a kindred featuring an index patient who possesses 2 copies of a dominantly inherited mutated CLCN1 allele with a resulting novel phenotypic presentation.
Geneviève, Bernard, Chantal, Poulin, Jack, Puymirat, Damien, Sternberg, Michael, Shevell   +4 more
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Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia

Neuromuscular Disorders, 2014
Nondystrophic myotonias are characterized by muscle stiffness triggered by voluntary movement. They are caused by mutations in either the CLCN1 gene in myotonia congenita or in the SCN4A gene in paramyotonia congenita and sodium channel myotonias. Clinical and electrophysiological phenotypes of these disorders have been well described.
A, Furby, S, Vicart, J P, Camdessanché, E, Fournier, S, Chabrier, E, Lagrue, C, Paricio, P, Blondy, R, Touraine, D, Sternberg, B, Fontaine   +10 more
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Truncating CLCN1 mutations in myotonia congenita: Variable patterns of inheritance

Muscle & Nerve, 2013
Myotonia congenita due to protein truncating CLCN1 mutations is associated with variable patterns of inheritance.Three family kindreds are described, all of whom possess protein truncating mutations (Y33X, fs503X, R894X). One lineage also has coexistent R894X, A313T, and A320V mutations.The Y33X mutation kinship has autosomal recessive inheritance and ...
Randal C. Richardson, Jack C. Tarleton, Thomas D. Bird, Sidney M. Gospe   +3 more
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Exon 17 skipping in CLCN1 leads to recessive myotonia congenita

Muscle & Nerve, 2004
AbstractMutations in CLCN1, the gene encoding the ClC‐1 chloride channel in skeletal muscle, lead to myotonia congenita. The effects on the intramembranous channel forming domains have been investigated more than that at the intracellular C‐terminus. We have performed a mutation screen involving the whole CLCN1 gene of patients with myotonia congenita ...
Lie, Chen, Martin, Schaerer, Zen H, Lu, Doris, Lang, Franziska, Joncourt, Joachim, Weis, Juerg, Fritschi, Lilianne, Kappeler, Sabina, Gallati, Erwin, Sigel, Jean-Marc, Burgunder   +10 more
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