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Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM. Engel AG, et al. Lancet Neurol. 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. Lancet Neurol. 2015. PMID: 25792100 Free PMC article. Review.
The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission at the motor endplate, a special synaptic contact between motor axons and each skeletal muscle fibre. ...Although most CMS are treatable, …
The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmissi …
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. ...A repetitive …
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. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%-27% of all CMS cases. Whether preimplantation genetic t …
BACKGROUND: Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. …