Journal of Neuroimmunology
Volume 201 , Pages 2-5 , 15 September 2008

The congenital myasthenic syndromes

  • Jackie Palace

      Affiliations

    • Department of Clinical Neurology, Level 3, West Wing, John Radcliffe Hospital, Headley Way, Headington OX3 9DU, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 1865 231868; fax: +44 1865 231914.
    • ,
  • David Beeson

      Affiliations

    • Neurosciences Group, Weatherall Institute of Molecular Medicine, Hospital John Radcliffe, Oxford OX3 9DS, UK

Received 15 April 2008 ,Revised 29 May 2008 ,Accepted 30 May 2008.

References 

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  2. Barisic N, Muller J, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, et al. Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. Eur. J. Paed. Neurol. 2005;9:7–12
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  13. Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain. 2007;130:1497–1506
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PII: S0165-5728(08)00198-7

doi: 10.1016/j.jneuroim.2008.05.030

Journal of Neuroimmunology
Volume 201 , Pages 2-5 , 15 September 2008

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