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Kongenitt myasthent syndrom

Sist oppdatert: Publisert:
Sist revidert av:
  1. Engel AG, Shen XM, Selcen D, Sine SM. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol. 2015. pmid:25895926 PubMed  
  2. Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, Freilinger M, Cetin H. The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study. J Neurol. 2022 Oct 29. doi: 10.1007/s00415-022-11440-0. Epub ahead of print. PMID: 36308527. PubMed  
  3. Estephan EP, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Töpf A, Helito PVP, Heise CO, Moreno CAM, Silva AMS, Kouyoumdjian JA, Morita MDP, Reed UC, Lochmüller H, Zanoteli E. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. Eur J Neurol. 2022 Mar;29(3):833-842. doi: 10.1111/ene.15173. Epub 2021 Nov 17. PMID: 34749429. PubMed  
  4. Iyadurai SJP. Congenital Myasthenic Syndromes. Neurol Clin. 2020 Aug;38(3):541-552. PMID: 32703467. PubMed  
  5. Garg N1, Yiannikas C2, Hardy TA1, Belaya K3, Cheung J3, Beeson D3, Reddel SW1. Late presentations of congenital myasthenic syndromes - how many do we miss?. Muscle Nerve. 2016. pmid:26910802 PubMed  
  6. Kao JC, Milone M, Selcen D, Shen XM, Engel AG, Liewluck T. Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy. Neurology. 2018 Oct 5. PMID: 30291185 PubMed  
  7. Abbas A, Jain R.. Repetitive compound muscle action potential: a characteristic diagnostic clue.. Pract Neurol. 2019; Feb;19(1: 77-79. pmid:30185630 PubMed  
  8. Beeson D. Congenital myasthenic syndromes: recent advances. Curr Opin Neurol. 2016 Oct;29(5):565-71 . pmid:27472506 PubMed  
  9. Abicht A, Müller J S, Lochmüller H. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® Internet. Seattle (WA): University of Washington, Seattle; 1993-2016.. Congenital Myasthenic Syndromes. . doi:20301347
  10. Luo S, Cai S, Maxwell S, Yue D, Zhu W, Qiao K, Zhu Z, Zhou L, Xi J, Lu J, Beeson D, Zhao C.. Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.. Neuromuscul Disord 2017. pmid:28433477 PubMed  
  11. Balcin H1, Palmio J2, Penttilä S2, Nennesmo I3, Lindfors M2, Solders G4, Udd B5.. Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. Neuromuscul Disord. 2017. pmid: 28478914 PubMed  
  12. Rodríguez Cruz PM, Belaya K, Basiri K, Sedghi M, Farrugia ME, Holton JL, Liu WW, Maxwell S, Petty R, Walls TJ, Kennett R, Pitt M, Sarkozy A, Parton M, Lochmüller H, Muntoni F, Palace J, Beeson D. Clinical features of the myasthenic syndrome arising from mutations in GMPPB. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):802-9 . pmid: 27147698 PubMed  
  13. Lorenzoni PJ, Kay CSK, Arndt RC, Hrysay NMC, Ducci RD, Fustes OHJ, Töpf A, Lochmüller H, Werneck LC, Scola RH. Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness. J Clin Neurosci. 2020 May;75:195-198. PMID: 32238315. PubMed  
  14. Engel AG. Genetic basis and phenotypic features of congenital myasthenic syndromes. Handb Clin Neurol. 2018;148:565-589. PMID: 29478601 PubMed  
  15. Mulroy E1, Ghaoui R2,3, Hutchinson D1, Rodrigues M1, Lek M4,5, MacArthur DG4,5, Cooper ST2, Clarke NF2,3, Roxburgh R1,6.. A 'limb-girdle muscular dystrophy' responsive to asthma therapy.. . pmid:28433973 PubMed  
  16. O'Connell K, Rooney T, Alabaf S, Ramdas S, Beeson D, Palace J. Pregnancy outcomes in patients with congenital myasthenic syndromes. Muscle Nerve. 2022 Sep;66(3):345-348. doi: 10.1002/mus.27653. Epub 2022 Jun 24. PMID: 35661384. PubMed  
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
  • Åse Mygland, spesialist i nevrologi, professor dr med