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Quoted phrase not found in phrase index: "Congenital myotonia, autosomal dominant form"
Page 1
Recent advances in understanding congenital myopathies.
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG. Ravenscroft G, et al. F1000Res. 2018 Dec 11;7:F1000 Faculty Rev-1921. doi: 10.12688/f1000research.16422.1. eCollection 2018. F1000Res. 2018. PMID: 30631434 Free PMC article. Review.
Recent discoveries include extending the disease phenotypes associated with previously identified genes and determining that genes formerly known to cause only dominant disease can also cause recessive disease. The more recently identified congenital myopathy genes …
Recent discoveries include extending the disease phenotypes associated with previously identified genes and determining that genes formerly …
Aerobic training in myotonia congenita: Effect on myotonia and fitness.
Andersen G, Løkken N, Vissing J. Andersen G, et al. Muscle Nerve. 2017 Oct;56(4):696-699. doi: 10.1002/mus.25549. Epub 2017 Mar 23. Muscle Nerve. 2017. PMID: 28039888
INTRODUCTION: Exercise has not been investigated in myotonia congenita (MC). We investigated whether regular aerobic training can reduce myotonia and improve fitness. ...Fitness was evaluated by maximal oxygen uptake. The level of myotonia was assessed …
INTRODUCTION: Exercise has not been investigated in myotonia congenita (MC). We investigated whether regular aerobic training …
Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.
Meola G. Meola G. Acta Myol. 2013 Dec;32(3):154-65. Acta Myol. 2013. PMID: 24803843 Free PMC article. Review.
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. ...In DM2 the clinical phenotype is extremely variable and there are no distinct clinical subgr …
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, …
Characteristics of myotonic dystrophy patients in the national registry of Japan.
Sugimoto M, Kuru S, Takada H, Horie R, Yamauchi K, Kubota T, Matsumura T, Nakamura H, Kimura E, Takahashi MP. Sugimoto M, et al. J Neurol Sci. 2022 Jan 15;432:120080. doi: 10.1016/j.jns.2021.120080. Epub 2021 Dec 11. J Neurol Sci. 2022. PMID: 34923335
Myotonic dystrophies (DM) are inherited autosomal dominant disorders affecting multiple organs. Currently available therapeutics for DM are limited; therefore, a patient registry is essential for therapeutic development and success of clinical trials targeting the d …
Myotonic dystrophies (DM) are inherited autosomal dominant disorders affecting multiple organs. Currently available therapeuti …
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
Bissay V, Van Malderen SC, Keymolen K, Lissens W, Peeters U, Daneels D, Jansen AC, Pappaert G, Brugada P, De Keyser J, Van Dooren S. Bissay V, et al. Eur J Hum Genet. 2016 Mar;24(3):400-7. doi: 10.1038/ejhg.2015.125. Epub 2015 Jun 3. Eur J Hum Genet. 2016. PMID: 26036855 Free PMC article.
SCN5A mutations involving the alpha-subunit of the cardiac voltage-gated muscle sodium channel (NaV1.5) result in different cardiac channelopathies with an autosomal-dominant inheritance such as Brugada syndrome. On the other hand, mutations in SCN4A encoding the al …
SCN5A mutations involving the alpha-subunit of the cardiac voltage-gated muscle sodium channel (NaV1.5) result in different cardiac channelo …
Prevalence and phenotypes of congenital myopathy due to alpha-actin 1 gene mutations.
Witting N, Werlauff U, Duno M, Vissing J. Witting N, et al. Muscle Nerve. 2016 Mar;53(3):388-93. doi: 10.1002/mus.24765. Epub 2015 Aug 13. Muscle Nerve. 2016. PMID: 26172852
METHODS: A national cohort of 91 patients aged 5 years and diagnosed with congenital myopathy was assessed for ACTA1 mutations and investigated clinically. ...This study shows that the prevalence of alpha-actin myopathy in older patients with congenital myopathy is …
METHODS: A national cohort of 91 patients aged 5 years and diagnosed with congenital myopathy was assessed for ACTA1 mutations and in …
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R. Marinella G, et al. Genes (Basel). 2023 Jun 28;14(7):1363. doi: 10.3390/genes14071363. Genes (Basel). 2023. PMID: 37510268 Free PMC article. Review.
BACKGROUND: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congenital Myopat …
BACKGROUND: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutatio …
Open-label trial of ranolazine for the treatment of myotonia congenita.
Arnold WD, Kline D, Sanderson A, Hawash AA, Bartlett A, Novak KR, Rich MM, Kissel JT. Arnold WD, et al. Neurology. 2017 Aug 15;89(7):710-713. doi: 10.1212/WNL.0000000000004229. Epub 2017 Jul 14. Neurology. 2017. PMID: 28710329 Free PMC article. Clinical Trial.
OBJECTIVE: To determine open-label, pilot study whether ranolazine could improve signs and symptoms of myotonia and muscle stiffness in patients with myotonia congenita (MC). ...CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that ranolazine …
OBJECTIVE: To determine open-label, pilot study whether ranolazine could improve signs and symptoms of myotonia and muscle stiffness …
Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.
Rüdel R, Ricker K, Lehmann-Horn F. Rüdel R, et al. Arch Neurol. 1993 Nov;50(11):1241-8. doi: 10.1001/archneur.1993.00540110113011. Arch Neurol. 1993. PMID: 8215982 Review.
METHODS AND RESULTS: Electrophysiology has suggested and molecular biology has proven that the diseases belonging to the adynamia-paramyotonia complex, ie, paramyotonia congenita, hyperkalemic and normokalemic periodic paralysis, and some rare forms of myotonic disease, ar …
METHODS AND RESULTS: Electrophysiology has suggested and molecular biology has proven that the diseases belonging to the adynamia-paramyoton …
AAEE minimonograph #27: differential diagnosis of myotonic syndromes.
Streib EW. Streib EW. Muscle Nerve. 1987 Sep;10(7):603-15. doi: 10.1002/mus.880100704. Muscle Nerve. 1987. PMID: 3309651 Review.
Recent advances in neuromuscular diseases have also widened the diagnostic spectrum of myotonic disorders. Treatment, prognosis, and genetic aspects are different in the various syndromes and mandate a correct diagnosis. ...
Recent advances in neuromuscular diseases have also widened the diagnostic spectrum of myotonic disorders. Treatment, prognosis, and …
86 results