Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK

Lorenzo Maggi, R. Brugnoni, V. Scaioli, T. L. Winden, L. Morandi, Andrew G Engel, R. Mantegazza, P. Bernasconi

Research output: Contribution to journalArticle

17 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)2894-2896
Number of pages3
JournalJournal of Neurology
Volume260
Issue number11
DOIs
StatePublished - Nov 2013

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Congenital Myasthenic Syndromes
Mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK. / Maggi, Lorenzo; Brugnoni, R.; Scaioli, V.; Winden, T. L.; Morandi, L.; Engel, Andrew G; Mantegazza, R.; Bernasconi, P.

In: Journal of Neurology, Vol. 260, No. 11, 11.2013, p. 2894-2896.

Research output: Contribution to journalArticle

Maggi, L, Brugnoni, R, Scaioli, V, Winden, TL, Morandi, L, Engel, AG, Mantegazza, R & Bernasconi, P 2013, 'Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK', Journal of Neurology, vol. 260, no. 11, pp. 2894-2896. https://doi.org/10.1007/s00415-013-7118-5
Maggi, Lorenzo ; Brugnoni, R. ; Scaioli, V. ; Winden, T. L. ; Morandi, L. ; Engel, Andrew G ; Mantegazza, R. ; Bernasconi, P. / Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK. In: Journal of Neurology. 2013 ; Vol. 260, No. 11. pp. 2894-2896.
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