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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 20"
Page 1
Myasthenia gravis and myasthenic syndromes.
Engel AG. Engel AG. Ann Neurol. 1984 Nov;16(5):519-34. doi: 10.1002/ana.410160502. Ann Neurol. 1984. PMID: 6095730 Review.
Recognition of the autoimmune origin of acquired MG also implied that myasthenic disorders occurring in a genetic or congenital setting had a different cause. As a result, a number of congenital myasthenic syndromes have come to be recognized an …
Recognition of the autoimmune origin of acquired MG also implied that myasthenic disorders occurring in a genetic or congenital …
Sleep in infants with congenital myasthenic syndromes.
Caggiano S, Khirani S, Verrillo E, Barnerias C, Amaddeo A, Gitiaux C, Thierry B, Desguerre I, Cutrera R, Fauroux B. Caggiano S, et al. Eur J Paediatr Neurol. 2017 Nov;21(6):842-851. doi: 10.1016/j.ejpn.2017.07.010. Epub 2017 Jul 21. Eur J Paediatr Neurol. 2017. PMID: 28755803
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained event (BRUE) and sleep-disordered breathing. ...The amplitudes of HR variations (bradycardia or tachycardia) were around 15-20 bpm, r …
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained …
VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.
Yıldırım M, Yarenci GB, Genç MB, Uçar Çİ, Bayav S, Tekin MN, Bektaş Ö, Teber S. Yıldırım M, et al. Neuropediatrics. 2024 Jun;55(3):200-204. doi: 10.1055/s-0044-1782675. Epub 2024 Mar 26. Neuropediatrics. 2024. PMID: 38531369 Review.
Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. ...Salbutamol syrup was added a few months later, but no significant improvement was observed. This case report p …
Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous muta …
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. ...Here we present the clinical and molecular genetic findings of 22 COLQ-mutant CMS patients, carryin …
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by …
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. CMS type 20 (CMS20) is a rare disorder caused by variants in SLC5A7. In contrast to most other CMSs …
BACKGROUND: Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, pto …
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Laforêt P, Vianey-Saban C. Laforêt P, et al. Neuromuscul Disord. 2010 Nov;20(11):693-700. doi: 10.1016/j.nmd.2010.06.018. Epub 2010 Aug 5. Neuromuscul Disord. 2010. PMID: 20691590 Review.
Three main diseases leading to permanent muscle weakness are associated with severe increased muscle lipid content (lipid storage myopathies): primary carnitine deficiency, neutral lipid storage disease and multiple acyl-CoA dehydrogenase deficiency. A moderate lipidosis may be …
Three main diseases leading to permanent muscle weakness are associated with severe increased muscle lipid content (lipid storage myopathies …
True grit and genetics: Predicting academic achievement from personality.
Rimfeld K, Kovas Y, Dale PS, Plomin R. Rimfeld K, et al. J Pers Soc Psychol. 2016 Nov;111(5):780-789. doi: 10.1037/pspp0000089. Epub 2016 Feb 11. J Pers Soc Psychol. 2016. PMID: 26867111 Free PMC article.
Grit-perseverance and passion for long-term goals-has been shown to be a significant predictor of academic success, even after controlling for other personality factors. ...Personality, primarily conscientiousness, predicts about 6% of the variance in GCSE grades, b …
Grit-perseverance and passion for long-term goals-has been shown to be a significant predictor of academic success, even after contro …
Fetal exposure to 3,4-diaminopyridine in a pregnant woman with congenital myasthenia syndrome.
Pelufo-Pellicer A, Monte-Boquet E, Romá-Sánchez E, Casanova-Sorní C, Poveda-Andrés JL. Pelufo-Pellicer A, et al. Ann Pharmacother. 2006 Apr;40(4):762-6. doi: 10.1345/aph.1G166. Epub 2006 Mar 14. Ann Pharmacother. 2006. PMID: 16537815
OBJECTIVE: To report a case of fetal exposure to pyridostigmine and 3,4-diaminopyridine (3,4-DAP) in a pregnant woman with congenital myasthenia syndrome (CMS). CASE SUMMARY: A 31-year-old woman with postsynaptic CMS, not genetically characterized, was being treated …
OBJECTIVE: To report a case of fetal exposure to pyridostigmine and 3,4-diaminopyridine (3,4-DAP) in a pregnant woman with congenital …