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Page 1
Myotonia congenita.
Lossin C, George AL Jr. Lossin C, et al. Adv Genet. 2008;63:25-55. doi: 10.1016/S0065-2660(08)01002-X. Adv Genet. 2008. PMID: 19185184 Review.
Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1. ...Although this is a rare dis …
Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chlorid …
Myotonia congenita.
Gutmann L, Phillips LH 2nd. Gutmann L, et al. Semin Neurol. 1991 Sep;11(3):244-8. doi: 10.1055/s-2008-1041228. Semin Neurol. 1991. PMID: 1947487 Review.
There are two types of MC, autosomal dominant and autosomal recessive (also called recessive generalized myotonia), both with the predominant clinical feature of diffuse myotonia. ...The major pathophysiologic abnormality is decreased membrane chloride conductance. …
There are two types of MC, autosomal dominant and autosomal recessive (also called recessive generalized myotonia), both with the pre …
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
Li Y, Li M, Wang Z, Yang F, Wang H, Bai X, Sun B, Chen S, Huang X. Li Y, et al. Channels (Austin). 2022 Dec;16(1):35-46. doi: 10.1080/19336950.2022.2041292. Channels (Austin). 2022. PMID: 35170402 Free PMC article. Review.
Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle. ...Warm-up phenomenon (5/6), percussion myotonia (3/5), and grip …
Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), en …
An unusual mutation in myotonia congenita.
Chien SC, Wu JW, Su YJ. Chien SC, et al. Am J Med Sci. 2022 Jun;363(6):e53-e55. doi: 10.1016/j.amjms.2020.11.010. Epub 2020 Nov 12. Am J Med Sci. 2022. PMID: 33531161 No abstract available.
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E. Colding-Jørgensen E. Muscle Nerve. 2005 Jul;32(1):19-34. doi: 10.1002/mus.20295. Muscle Nerve. 2005. PMID: 15786415 Review.
Myotonia congenita is a hereditary chloride channel disorder characterized by delayed relaxation of skeletal muscle (myotonia). It is caused by mutations in the skeletal muscle chloride channel gene CLCN1 on chromosome 7. The phenotypic spectrum of myotoni …
Myotonia congenita is a hereditary chloride channel disorder characterized by delayed relaxation of skeletal muscle (myoton …
Plateau potentials contribute to myotonia in mouse models of myotonia congenita.
Wang X, Dupont C, Grant D, Voss AA, Rich MM. Wang X, et al. Exp Neurol. 2023 Mar;361:114303. doi: 10.1016/j.expneurol.2022.114303. Epub 2022 Dec 20. Exp Neurol. 2023. PMID: 36563835 Free PMC article.
In the current study we examined whether plateau potentials contribute to myotonia. A recessive genetic model (ClC(adr) mice) with complete loss of muscle chloride channel (ClC-1) function was used to model severe myotonia congenita with complete loss of ClC- …
In the current study we examined whether plateau potentials contribute to myotonia. A recessive genetic model (ClC(adr) mice) with co …
[Myotonia congenita].
Watanabe C, Nakamura S. Watanabe C, et al. No To Shinkei. 1997 Dec;49(12):1080-7. No To Shinkei. 1997. PMID: 9453038 Review. Japanese. No abstract available.
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP, De Castro CP, Gómez-González C, Martínez-Montero P, Pascual Pascual SI, Molano Mateos J. Milla CP, et al. J Genet. 2019 Sep;98:71. J Genet. 2019. PMID: 31544778 Free article.
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- …
Myotonia congenita (MC) is a Mendelian inherited genetic disease caused by the mutations in the CLCN1 gene, encoding the main …
Adolph Seeligmuller's contribution to myotonia congenita Thomsen.
Arendt C, Zierz S. Arendt C, et al. Neuromuscul Disord. 2020 Dec;30(12):999-1004. doi: 10.1016/j.nmd.2020.10.004. Epub 2020 Oct 20. Neuromuscul Disord. 2020. PMID: 33221127
Both articles dealt with a disease that has later been referred to as myotonia congenita by Adolf Strumpell (1853-1925) in 1881. Carl Westphal (1833-1890), however, ignored the contribution of Seeligmuller and proposed to name the disease Thomsen'sche Krankheit (Tho …
Both articles dealt with a disease that has later been referred to as myotonia congenita by Adolf Strumpell (1853-1925) in 188 …
Acetazolamide-responsive myotonia congenita.
Trudell RG, Kaiser KK, Griggs RC. Trudell RG, et al. Neurology. 1987 Mar;37(3):488-91. doi: 10.1212/wnl.37.3.488. Neurology. 1987. PMID: 3822145
We have studied 14 patients from a kindred with an autosomal dominant form of myotonia, with features differing from most cases of autosomal dominant or recessive myotonia congenita. ...Muscle biopsies showed the presence of type 1, 2A, and 2B fibers, as oppo …
We have studied 14 patients from a kindred with an autosomal dominant form of myotonia, with features differing from most cases of au …
1,314 results

Searches related to "myotonia congenita"