Congenital Myasthenic Syndrome
Last Posted: Mar 05, 2023
- A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
Estephan Eduardo de Paula, et al. Journal of neurology 2018 0 (3) 708-713
- No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.
Parvizi Omran Sima, et al. Iranian journal of child neurology 2019 0 (2) 135-143
- Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Maggi Lorenzo, et al. Frontiers in neurology 2020 0 646
- [Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome].
Liu Yong, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (5) 551-554
- Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.
Lorenzoni Paulo José, et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2020 0 195-198
- Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.
Lorenzoni Paulo José, et al. Arquivos de neuro-psiquiatria 2021 0 (1) 69-74
- Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Aharoni Sharon, et al. Neuromuscular disorders : NMD 2016 0 (2) 136-140
- Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim Man Jin et al. Annals of laboratory medicine 2022 43(3) 280-289
- Myasthenia gravis genome-wide association study implicates AGRN as a risk locus.
Topaloudi Apostolia, et al. Journal of medical genetics 2021 8
- Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.
Winder Thomas L et al. Neurology. Genetics 2020 Apr 6(2) e412
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- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 07, 2023
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