Results 121 to 130 of about 2,226 (158)

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
openaire   +4 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype [PDF]

European Journal of Human Genetics, 2004
Mutations in the CLCN1 gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC). The recessive form, Becker's myotonia, is believed to be caused by two loss-of-function mutations, whereas the dominant form, Thomsen's myotonia, is assumed to be a consequence of a dominant-negative effect. However,
John Vissing, Thomas Jespersen, Morten Dunø   +2 more
exaly   +4 more sources

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
openaire   +2 more sources

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 ...
Chen, Lie, Schaerer, Martin, Lu, Zen H, Lang, Doris, Joncourt, Franziska, Weis, Joachim, Fritschi, Juerg, Kappeler, Lilianne, Gallati, Sabina, Sigel, Erwin, Burgunder, Jean-Marc   +10 more
openaire   +4 more sources

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes

Journal of the Neurological Sciences, 2016
Non-dystrophic myotonias are caused by mutations of either the skeletal muscle chloride (CLCN1) or sodium channel (SCN4A) gene. They exhibit several distinct phenotypes, including myotonia congenita, paramyotonia congenita and sodium channel myotonia, and a genotype-phenotype correlation has been established.
Hideki, Kato, Yosuke, Kokunai, Carine, Dalle, Tomoya, Kubota, Yuta, Madokoro, Hiroyuki, Yuasa, Yuto, Uchida, Tomomasa, Ikeda, Hideki, Mochizuki, Sophie, Nicole, Bertrand, Fontaine, Masanori P, Takahashi, Shigehisa, Mitake   +12 more
openaire   +2 more sources

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia

Neurogenetics, 2017
Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes.
Concetta Altamura, Sabrina Ravaglia, Jean-François Desaphy   +2 more
exaly   +4 more sources

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
openaire   +2 more sources

The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias

Russian Journal of Genetics, 2012
Thomsen's and Becker's diseases are the most prevalent nondystrophic myotonias. Their frequency varies, according to different sources, from 1 : 100 000 to 1 : 10 000. Thomsen's myotonia is autosomal dominant, and Becker's myotonia is autosomal recessive.
E A, Ivanova, E L, Dadali, V P, Fedotov, S A, Kurbatov, G E, Rudenskaia, T N, Proskokova, A V, Poliakov   +6 more
openaire   +2 more sources