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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 …
[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.
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.
[Dominant myotonia congenita(Thomsen disease)].
Saito K, Yazaki E. Saito K, et al. Ryoikibetsu Shokogun Shirizu. 2001;(35):120-2. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11555886 Review. Japanese. 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 …
[Myotonia congenita].
Saito K. Saito K. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):257-9. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528728 Review. Japanese. No abstract available.
[Thomsen disease (myotonia congenita].
Colding-Jørgensen E. Colding-Jørgensen E. Ugeskr Laeger. 2004 Sep 6;166(37):3179-84. Ugeskr Laeger. 2004. PMID: 15384367 Review. Danish. No abstract available.
Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses.
Bandschapp O, Iaizzo PA. Bandschapp O, et al. Paediatr Anaesth. 2013 Sep;23(9):824-33. doi: 10.1111/pan.12217. Epub 2013 Jun 27. Paediatr Anaesth. 2013. PMID: 23802937 Review.
Myotonia congenita and periodic paralyses are hereditary skeletal muscle channelopathies. ...
Myotonia congenita and periodic paralyses are hereditary skeletal muscle channelopathies. ...
1,293 results

Searches related to "myotonia congenita"