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Quoted phrase not found in phrase index: "Myasthenic syndrome, congenital, 22"
Page 1
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.
Shao S, Shi G, Bi FF, Huang K. Shao S, et al. Curr Neuropharmacol. 2023;21(7):1594-1605. doi: 10.2174/1570159X21666230126145652. Curr Neuropharmacol. 2023. PMID: 36703579 Free PMC article. Review.
BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. ...Most studies were case reports, and none were randomized clinical trials. Our meta-analysis revealed evidence th …
BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various …
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 …
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H. Mihaylova V, et al. Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7. Brain. 2008. PMID: 18180250
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COLQ) cause synaptic bas …
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by …
A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors.
Triggs WJ, Beric A, Butler IJ, Roongta SM. Triggs WJ, et al. Muscle Nerve. 1992 Mar;15(3):267-72. doi: 10.1002/mus.880150302. Muscle Nerve. 1992. PMID: 1313543
We studied 4 siblings (3 men and 1 woman), ages 22 to 43 years, with congenital ptosis, external ophthalmoplegia, proximal muscle weakness and fatigability unresponsive to acetylcholinesterase (AChE) inhibitors. ...Edrophonium eliminated the decremental response to …
We studied 4 siblings (3 men and 1 woman), ages 22 to 43 years, with congenital ptosis, external ophthalmoplegia, proximal mus …
Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations.
Sadeh M, Shen XM, Engel AG. Sadeh M, et al. Muscle Nerve. 2011 Aug;44(2):289-91. doi: 10.1002/mus.22153. Epub 2011 Jun 30. Muscle Nerve. 2011. PMID: 21721016 Free PMC article.
Mutations in the epsilon subunit of the acetylcholine receptor (AChR) are a common cause of congenital myasthenic syndrome (CMS). Patients are usually treated with acetylcholinesterase inhibitors and 3,4-diaminopyridine with modest clinical benefit. .. …
Mutations in the epsilon subunit of the acetylcholine receptor (AChR) are a common cause of congenital myasthenic syndrome …
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmüller H. Whittaker RG, et al. Neurology. 2015 Dec 1;85(22):1964-71. doi: 10.1212/WNL.0000000000002185. Epub 2015 Oct 30. Neurology. 2015. PMID: 26519543 Free PMC article.
OBJECTIVES: To describe the clinical and electrophysiologic features of synaptotagmin II (SYT2) mutations, a novel neuromuscular syndrome characterized by foot deformities and fatigable ocular and lower limb weakness, and the response to modulators of acetylcholine …
OBJECTIVES: To describe the clinical and electrophysiologic features of synaptotagmin II (SYT2) mutations, a novel neuromuscular s …
Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
Tian WT, Zhou HY, Zhan FX, Zhu ZY, Yang J, Chen SD, Luan XH, Cao L. Tian WT, et al. Ann Clin Transl Neurol. 2019 May 8;6(6):1062-1071. doi: 10.1002/acn3.787. eCollection 2019 Jun. Ann Clin Transl Neurol. 2019. PMID: 31211170 Free PMC article.
OBJECTIVE: GDP-mannose pyrophosphorylase B (GMPPB) related phenotype spectrum ranges widely from congenital myasthenic syndrome (CMS), limb-girdle muscular dystrophy type 2T (LGMD 2T) to severe congenital muscle-eye-brain syndrome. Our study inv …
OBJECTIVE: GDP-mannose pyrophosphorylase B (GMPPB) related phenotype spectrum ranges widely from congenital myasthenic synd …
Congenital myasthenic syndrome: a case report.
Ceylan A, Tuncer O, Sayin R, Peker E, Caksen H, Sari S. Ceylan A, et al. Genet Couns. 2011;22(1):75-8. Genet Couns. 2011. PMID: 21614992
Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. ...A seven-month old male patient was brought to our department with the complaints of difficult breathing, falling of the eyelids and swallowing difficulty. With clinical …
Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. ...A seven-month old male patient was …
Clinical features in a series of fast channel congenital myasthenia syndrome.
Palace J, Lashley D, Bailey S, Jayawant S, Carr A, McConville J, Robb S, Beeson D. Palace J, et al. Neuromuscul Disord. 2012 Feb;22(2):112-7. doi: 10.1016/j.nmd.2011.08.002. Epub 2011 Sep 21. Neuromuscul Disord. 2012. PMID: 21940170
Fast channel congenital myasthenic syndromes are rare, but frequently result in severe weakness. We report a case of 12 fast channel patients to highlight clinical features and management difficulties. Patients were diagnosed through genetic screening …
Fast channel congenital myasthenic syndromes are rare, but frequently result in severe weakness. We report a case of 12 …
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