Congenital Myasthenic Syndrome
What's New
Last Posted: Jul 20, 2024
- Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
Kristina Kastreva, et al. Journal of neuromuscular diseases 2024 0 - [Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene].
Fanrong Meng, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 0 (4) 450-455 - Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Ben Weisburd et al. medRxiv 2024 - 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
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- Page last reviewed:Feb 1, 2024
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