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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 14"
Page 1
Myasthenia gravis in childhood and adolescence. Report on 209 patients and review of the literature.
Szobor A, Máttyus A, Molnár J. Szobor A, et al. Acta Paediatr Hung. 1988-1989;29(3-4):299-312. Acta Paediatr Hung. 1988. PMID: 3077607 Review.
A classification is given concerning juvenile myasthenia: 1. Neonatal (transitory) myasthenia. 2. Congenital (local, non-progressive) form. 3. Congenital form with late generalized symptoms. 4. ...Adolescent type myasthenia (juvenile form). 7. Associated myasthenia, …
A classification is given concerning juvenile myasthenia: 1. Neonatal (transitory) myasthenia. 2. Congenital (local, non-progressive) …
Congenital myasthenic syndromes: current diagnostic and therapeutic approaches.
Schara U, Della Marina A, Abicht A. Schara U, et al. Neuropediatrics. 2012 Aug;43(4):184-93. doi: 10.1055/s-0032-1323850. Epub 2012 Aug 21. Neuropediatrics. 2012. PMID: 22911480 Review.
Congenital myasthenic syndromes (CMS) are rare genetically and clinically heterogeneous disorders characterized by an impaired neuromuscular transmission. ...But, the exact diagnosis is extremely important to start early appropriate therapy to prevent life-th …
Congenital myasthenic syndromes (CMS) are rare genetically and clinically heterogeneous disorders characterized by an i …
Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.
Ma Y, Xiong T, Lei G, Ding J, Yang R, Li Z, Guo J, Shen D. Ma Y, et al. Neurol Sci. 2021 Aug;42(8):3485-3490. doi: 10.1007/s10072-020-05021-0. Epub 2021 Jan 13. Neurol Sci. 2021. PMID: 33438142
BACKGROUND: Congenital myasthenic syndrome (CMS) is a heterogeneous group of rare disorders with impaired neuromuscular transmission caused by genetic defects, which is characterized by fatigable muscle weakness. ...Whole-exome sequencing disclosed two novel …
BACKGROUND: Congenital myasthenic syndrome (CMS) is a heterogeneous group of rare disorders with impaired neuromuscular …
How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia.
Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S. Parr JR, et al. Arch Dis Child. 2014 Jun;99(6):539-42. doi: 10.1136/archdischild-2013-304788. Epub 2014 Feb 5. Arch Dis Child. 2014. PMID: 24500997
Specifically, we aimed to identify the detected incidence of autoimmune myasthenia and the detected prevalence of genetically confirmed congenital myasthenic syndrome (CMS) in children. METHODS: All children under 18 years of age on 31 December 2009 with a co …
Specifically, we aimed to identify the detected incidence of autoimmune myasthenia and the detected prevalence of genetically confirmed c …
Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations.
Lamond A, Buckley D, O'Dea J, Turner L. Lamond A, et al. BMJ Case Rep. 2021 Jan 18;14(1):e237799. doi: 10.1136/bcr-2020-237799. BMJ Case Rep. 2021. PMID: 33462016 Free PMC article.
This report describes the variation in presentation of two unrelated patients found to have a rare form of presynaptic congenital myasthenic syndrome. Both patients presented with hypotonia, ptosis, poor weight gain and apneic episodes. ...These specific vari …
This report describes the variation in presentation of two unrelated patients found to have a rare form of presynaptic congenital …
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Vlckova M, Prchalova D, Zimmermann P, Haberlova J, Bendova S, Moslerova V, Stranecky V, Sedlacek Z, Hancarova M. Vlckova M, et al. Mol Genet Genomic Med. 2023 Jun;11(6):e2154. doi: 10.1002/mgg3.2154. Epub 2023 Feb 24. Mol Genet Genomic Med. 2023. PMID: 36840359 Free PMC article.
BACKGROUND: Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. ...In silico analysis of known pathogenic SLC5A7 variants showed that variants with a higher predicted …
BACKGROUND: Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, pto …
Congenital myasthenic syndromes: A diverse array of molecular targets.
Engel AG, Ohno K, Sine SM. Engel AG, et al. J Neurocytol. 2003 Jun-Sep;32(5-8):1017-37. doi: 10.1023/B:NEUR.0000020639.22895.28. J Neurocytol. 2003. PMID: 15034283 Review.
The neuromuscular junction (NMJ) has served as a prototype for understanding mechanisms underlying synaptic transmission over the past 50 years. More recently, analysis of congenital myasthenic syndromes (CMS) revealed a diverse array of molecular targets and …
The neuromuscular junction (NMJ) has served as a prototype for understanding mechanisms underlying synaptic transmission over the past 50 ye …
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.
Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, Klassen TL, Lara M, Nguyen J, Kissel JT, Lossin C, Maselli RA. Arnold WD, et al. Ann Neurol. 2015 May;77(5):840-50. doi: 10.1002/ana.24389. Epub 2015 Mar 27. Ann Neurol. 2015. PMID: 25707578 Free PMC article.
OBJECTIVE: To describe the unique phenotype and genetic findings in a 57-year-old female with a rare form of congenital myasthenic syndrome (CMS) associated with longstanding muscle fatigability, and to investigate the underlying pathophysiology. ...However, …
OBJECTIVE: To describe the unique phenotype and genetic findings in a 57-year-old female with a rare form of congenital myasthenic …
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
Banwell BL, Ohno K, Sieb JP, Engel AG. Banwell BL, et al. Neuromuscul Disord. 2004 Mar;14(3):202-7. doi: 10.1016/j.nmd.2003.11.004. Neuromuscul Disord. 2004. PMID: 15036330
Rapsyn is essential for clustering the acetylcholine receptor at the postsynaptic membrane of the neuromuscular junction. Direct sequencing of RAPSN in two children with congenital myasthenic syndromes with no mutation in any of the AChR subunits identified t …
Rapsyn is essential for clustering the acetylcholine receptor at the postsynaptic membrane of the neuromuscular junction. Direct sequencing …
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Männikkö R, Wong L, Tester DJ, Thor MG, Sud R, Kullmann DM, Sweeney MG, Leu C, Sisodiya SM, FitzPatrick DR, Evans MJ, Jeffrey IJM, Tfelt-Hansen J, Cohen MC, Fleming PJ, Jaye A, Simpson MA, Ackerman MJ, Hanna MG, Behr ER, Matthews E. Männikkö R, et al. Lancet. 2018 Apr 14;391(10129):1483-1492. doi: 10.1016/S0140-6736(18)30021-7. Epub 2018 Apr 5. Lancet. 2018. PMID: 29605429 Free PMC article.
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. ...Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and my …
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. ...Varia …
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