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

Year Number of Results
1963 1
1964 1
1965 1
1967 1
1968 1
1969 1
1970 2
1971 4
1972 1
1974 1
1976 2
1977 2
1978 1
1979 3
1980 1
1982 3
1983 1
1984 1
1985 3
1987 1
1988 3
1989 2
1990 1
1991 2
1992 3
1993 9
1994 2
1995 6
1996 5
1997 5
1998 1
1999 5
2000 4
2001 5
2002 4
2003 3
2004 2
2005 2
2006 2
2007 4
2008 4
2010 1
2011 1
2013 2
2014 2
2016 4
2017 3
2018 3
2019 3
2020 7
2021 1
2022 1
2023 2

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132 results

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Page 1
Guidelines on clinical presentation and management of nondystrophic myotonias.
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM. Stunnenberg BC, et al. Muscle Nerve. 2020 Oct;62(4):430-444. doi: 10.1002/mus.26887. Epub 2020 May 27. Muscle Nerve. 2020. PMID: 32270509 Free PMC article. Review.
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after volunt …
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-fu …
Muscle channelopathies.
Vivekanandam V, Jayaseelan D, Hanna MG. Vivekanandam V, et al. Handb Clin Neurol. 2023;195:521-532. doi: 10.1016/B978-0-323-98818-6.00006-6. Handb Clin Neurol. 2023. PMID: 37562884 Review.
The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, and sodium channel myotonia. ...As genetic testing expands, so have the spectrum of phenotypes seen including pediatric presentations …
The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, …
Muscle hypertrophy and pseudohypertrophy.
Walters J. Walters J. Pract Neurol. 2017 Oct;17(5):369-379. doi: 10.1136/practneurol-2017-001695. Epub 2017 Aug 4. Pract Neurol. 2017. PMID: 28778933 Review.
This finding may reflect true muscle hypertrophy-myofibres enlarged from repetitive activity, for example, in myotonia congenita or neuromyotonia-or muscles enlarged by the infiltration of fat or other tissue termed pseudohypertrophy or false enlargement. ...
This finding may reflect true muscle hypertrophy-myofibres enlarged from repetitive activity, for example, in myotonia congenita
Myopathies.
Glasberg MR. Glasberg MR. Neurosurgery. 1979 Dec;5(6):747-58. doi: 10.1227/00006123-197912000-00017. Neurosurgery. 1979. PMID: 392333 Review.
The author discusses the clinical patterns, inheritance, and pathogenesis of progressive muscular dystrophies, especially Duchenne muscular dystrophy; myotonic disorders; glycogen storage diseases; disorders of lipid metabolism; mitochondrial diseases; and congenital muscl …
The author discusses the clinical patterns, inheritance, and pathogenesis of progressive muscular dystrophies, especially Duchenne muscular …
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.
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. Recessive MC patients have more weakness than patie …
There are two types of MC, autosomal dominant and autosomal recessive (also called recessive generalized myot
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. The disorder may be transmitte
Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chlorid
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 …
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
The nondystrophic myotonias.
Heatwole CR, Moxley RT 3rd. Heatwole CR, et al. Neurotherapeutics. 2007 Apr;4(2):238-51. doi: 10.1016/j.nurt.2007.01.012. Neurotherapeutics. 2007. PMID: 17395134 Review.
The nondystrophic myotonias are a heterogeneous set of rare diseases that demonstrate clinical myotonia, electrical myotonia, or both. These disorders are distinguished from myotonic dystrophy type 1 (DM-1), the more recently described proximal myotonic myopathy/myo …
The nondystrophic myotonias are a heterogeneous set of rare diseases that demonstrate clinical myotonia, electrical myotonia, …
132 results