Skip to main content

Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis

This is a preview of subscription content, access via your institution.

References

  1. Hantaï D, Richard P, Koenig J, Eymard B (2004) Congenital myasthenic syndromes. Curr Opin Neurol 17(5):539–551

    PubMed  Article  Google Scholar 

  2. Schara U, Della Marina A, Abicht A (2012) Congenital myasthenic syndromes: current diagnostic and therapeutic approaches. Neuropediatrics 43:184–193

    PubMed  Article  CAS  Google Scholar 

  3. Newsom-Davis J (2005) Neuromuscular junction channelopathies: a brief overview. Acta Neurol Belg 105:181–186

    PubMed  Google Scholar 

  4. Wargon I, Richard P, Kuntzer T et al (2012) Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. Neuromuscul Disord 22:318–324

    PubMed  Article  CAS  Google Scholar 

  5. Palace J, Lashley D, Newsom-Davis J et al (2007) Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain. 130:1507–1515

    PubMed  Article  Google Scholar 

  6. Muller JS, Herczegfalvi A, Vilchez JJ et al (2007) Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 130:1497–1506

    PubMed  Article  Google Scholar 

  7. Bestue-Cardiel M, Saenz de Cabezon-Alvarez A, Capablo-Liesa JL et al (2005) Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. Neurology 65:144–146

    PubMed  Article  CAS  Google Scholar 

Download references

Conflict of interest

None.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Barış Ekici.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Duran, G.S., Uzunhan, T.A., Ekici, B. et al. Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis. Acta Neurol Belg 113, 531–532 (2013). https://doi.org/10.1007/s13760-013-0179-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13760-013-0179-5

Keywords

  • Salbutamol
  • Ephedrine
  • Ophthalmoplegia
  • Severe Scoliosis
  • Congenital Myasthenic Syndrome