Congenital Myasthenic Syndrome
What's New
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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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 07, 2023
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