Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1972 1
1974 1
1975 1
1976 1
1979 1
1980 1
1982 1
1983 3
1984 1
1985 3
1988 1
1989 1
1990 1
1991 3
1992 4
1993 4
1994 1
1995 6
1996 4
1997 1
1998 1
2000 1
2002 1
2005 2
2006 1
2007 3
2008 5
2009 2
2010 1
2011 4
2012 4
2013 4
2014 2
2015 4
2016 7
2017 11
2018 6
2019 4
2020 9
2021 6
2022 3
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

113 results

Results by year

Filters applied: . Clear all
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.
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 …
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 …
Inherited ion channel disorders.
Surtees R. Surtees R. Eur J Pediatr. 2000 Dec;159 Suppl 3:S199-203. doi: 10.1007/pl00014403. Eur J Pediatr. 2000. PMID: 11216900 Review.
These disorders include skeletal muscle sodium channelopathies causing hyperkalaemic periodic paralysis, paramyotonia congenita and potassium-aggravated myotonia. Skeletal muscle calcium channelopathies can cause hypokalaemic periodic paralysis, malignant hypertherm …
These disorders include skeletal muscle sodium channelopathies causing hyperkalaemic periodic paralysis, paramyotonia congenita and p …
Drug treatment for myotonia.
Trip J, Drost G, van Engelen BG, Faber CG. Trip J, et al. Cochrane Database Syst Rev. 2006 Jan 25;2006(1):CD004762. doi: 10.1002/14651858.CD004762.pub2. Cochrane Database Syst Rev. 2006. PMID: 16437496 Free PMC article. Review.
The primary outcome measure was:reduced clinical myotonia using two categories: (1) no residual myotonia or improvement of myotonia or (2) No change or worsening of myotonia. ...MAIN RESULTS: Nine randomised controlled trials were found comparing activ …
The primary outcome measure was:reduced clinical myotonia using two categories: (1) no residual myotonia or improvement of …
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 …
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 …
113 results