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Quoted phrase not found in phrase index: "Congenital myotonia, autosomal dominant form"
Page 1
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, Jayaseelan D, Haworth A, Sweeney MG, Kullmann DM, Schorge S, Hanna MG, Männikkö R. Suetterlin K, et al. Brain. 2022 Apr 18;145(2):607-620. doi: 10.1093/brain/awab344. Brain. 2022. PMID: 34529042 Free PMC article.
We report our approach to evaluating variants in the skeletal muscle chloride channel ClC-1 identified in 223 probands with myotonia congenita as an example of these challenges. Sequencing of CLCN1, the gene that encodes CLC-1, is central to the diagnosis of myot …
We report our approach to evaluating variants in the skeletal muscle chloride channel ClC-1 identified in 223 probands with myotonia …
Diagnostics in skeletal muscle channelopathies.
Vicino A, Brugnoni R, Maggi L. Vicino A, et al. Expert Rev Mol Diagn. 2023 Jul-Dec;23(12):1175-1193. doi: 10.1080/14737159.2023.2288258. Epub 2023 Dec 15. Expert Rev Mol Diagn. 2023. PMID: 38009256 Review.
AREAS COVERED: SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs. ...Detailed personal and family history and clinical examin …
AREAS COVERED: SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, …
Skeletal Muscle Channelopathies.
Vivekanandam V, Munot P, Hanna MG, Matthews E. Vivekanandam V, et al. Neurol Clin. 2020 Aug;38(3):481-491. doi: 10.1016/j.ncl.2020.04.003. Neurol Clin. 2020. PMID: 32703462 Review.
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 …
Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.
Özgün N, Taşlıdere H. Özgün N, et al. Turk J Pediatr. 2020;62(3):450-460. doi: 10.24953/turkjped.2020.03.012. Turk J Pediatr. 2020. PMID: 32558419 Free article. Review.
BACKGROUND AND OBJECTIVES: Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease). ...
BACKGROUND AND OBJECTIVES: Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel g …
Current and future therapeutic approaches to the congenital myopathies.
Jungbluth H, Ochala J, Treves S, Gautel M. Jungbluth H, et al. Semin Cell Dev Biol. 2017 Apr;64:191-200. doi: 10.1016/j.semcdb.2016.08.004. Epub 2016 Aug 8. Semin Cell Dev Biol. 2017. PMID: 27515125 Review.
The congenital myopathies - including Central Core Disease (CCD), Multi-minicore Disease (MmD), Centronuclear Myopathy (CNM), Nemaline Myopathy (NM) and Congenital Fibre Type Disproportion (CFTD) - are a genetically heterogeneous group of early-onset neuromuscular c …
The congenital myopathies - including Central Core Disease (CCD), Multi-minicore Disease (MmD), Centronuclear Myopathy (CNM), Nemalin …
Primary periodic paralyses.
Finsterer J. Finsterer J. Acta Neurol Scand. 2008 Mar;117(3):145-58. doi: 10.1111/j.1600-0404.2007.00963.x. Epub 2007 Nov 20. Acta Neurol Scand. 2008. PMID: 18031562 Review.
Primary PPs include entities such as hyperkalemic PP, hypokalemic PP, paramyotonia congenita von Eulenburg, Andersen's syndrome, thyrotoxic PP, distal renal tubular acidosis, X-linked episodic muscle weakness syndrome and congenital myasthenic syndromes. Attacks of …
Primary PPs include entities such as hyperkalemic PP, hypokalemic PP, paramyotonia congenita von Eulenburg, Andersen's syndrome, thyr …
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T. Massalska D, et al. Clin Genet. 2016 Sep;90(3):199-210. doi: 10.1111/cge.12801. Epub 2016 Jun 2. Clin Genet. 2016. PMID: 27197572 Review.
Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. ...
Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited dise …
Approach to the diagnosis of congenital myopathies.
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. North KN, et al. Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18. Neuromuscul Disord. 2014. PMID: 24456932 Free PMC article.
Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of t …
Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. Ho …
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V, Männikkö R, Matthews E, Hanna MG. Vivekanandam V, et al. Expert Rev Mol Diagn. 2020 Jul;20(7):725-736. doi: 10.1080/14737159.2020.1782195. Epub 2020 Jul 12. Expert Rev Mol Diagn. 2020. PMID: 32657178 Review.
112 results