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Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Tsao CY. Tsao CY. Pediatr Neurol. 2016 Jan;54:85-7. doi: 10.1016/j.pediatrneurol.2015.09.019. Epub 2015 Nov 6. Pediatr Neurol. 2016. PMID: 26552645 Review.
CONCLUSION: DOK7 congenital myasthenic syndrome often presents with limb-girdle muscle weakness, which can become progressive without proper treatment. If muscle biopsy reveals no obvious etiology, an expanded neuromuscular gene panel may lead to a specific d …
CONCLUSION: DOK7 congenital myasthenic syndrome often presents with limb-girdle muscle weakness, which can become progr …
The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.
Vanhaesebrouck AE, Beeson D. Vanhaesebrouck AE, et al. Curr Opin Neurol. 2019 Oct;32(5):696-703. doi: 10.1097/WCO.0000000000000736. Curr Opin Neurol. 2019. PMID: 31361628 Free PMC article. Review.
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. ...SUMMARY: Recent studies of …
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mut …
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U. Özsoy Ö, et al. Acta Neurol Belg. 2023 Dec;123(6):2325-2335. doi: 10.1007/s13760-023-02370-3. Epub 2023 Sep 1. Acta Neurol Belg. 2023. PMID: 37656362
RESULTS: A total of 22 (12 congenital myasthenic syndrome, 10 juvenile myasthenia gravis) patients were identified. Defects in the acetylcholine receptor (6/12) were the most common type in the congenital myasthenic syndrome group. Basal- …
RESULTS: A total of 22 (12 congenital myasthenic syndrome, 10 juvenile myasthenia gravis) patients were identified. Def …
Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
Yildiz EP, Kilic MA, Yalcin EU, Kurekci F, Avci R, Hacıfazlıoğlu NE, Ceylaner S, Gezdirici A, Çalışkan M. Yildiz EP, et al. Acta Neurol Belg. 2023 Oct;123(5):1841-1847. doi: 10.1007/s13760-022-02090-0. Epub 2022 Sep 12. Acta Neurol Belg. 2023. PMID: 36094697
INTRODUCTION: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety factor which required for neuromuscular transmission. ...
INTRODUCTION: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety …
Management of myasthenic conditions: nonimmune issues.
Argov Z. Argov Z. Curr Opin Neurol. 2009 Oct;22(5):493-7. doi: 10.1097/WCO.0b013e32832f15fa. Curr Opin Neurol. 2009. PMID: 19593127 Review.
PURPOSE OF REVIEW: To review some management issues in myasthenic disorders that are not part of the immune interventions. ...Pyridostigmine seems not to have an additional effect to 3-4 diaminopyridine in Lambert Eaton myasthenic syndrome. Bilevel positive a …
PURPOSE OF REVIEW: To review some management issues in myasthenic disorders that are not part of the immune interventions. ...Pyridos …
Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Kinali M, et al. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15. J Neuroimmunol. 2008. PMID: 18707767
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. We present our …
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, ar …
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.
Zhang Z, Zhang X, Xue H, Chu L, Hu L, Bi X, Zhu P, Zhang D, Chen J, Cui X, Kong L, Liang B, Wu X. Zhang Z, et al. Mol Genet Genomic Med. 2024 Mar;12(3):e2409. doi: 10.1002/mgg3.2409. Mol Genet Genomic Med. 2024. PMID: 38511267 Free PMC article.
BACKGROUND: Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. ...RESULTS: The family carried two likely pathogenic variants in RAPSN(NM_005055.5): c.133G>A (p.V45M) and c.280G>A (p.E94K). A …
BACKGROUND: Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. …
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine.
Harper CM, Fukodome T, Engel AG. Harper CM, et al. Neurology. 2003 May 27;60(10):1710-3. doi: 10.1212/01.wnl.0000061483.11417.1b. Neurology. 2003. PMID: 12771277
The authors found that fluoxetine significantly shortens at 5 microM/L and nearly normalizes at 10 microM/L the prolonged opening bursts of slow-channel congenital myasthenic syndrome (SCCMS) acetylcholine receptors (AChR) expressed in fibroblasts. ...
The authors found that fluoxetine significantly shortens at 5 microM/L and nearly normalizes at 10 microM/L the prolonged opening bur …