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

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References

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Acknowledgments

This work was supported in part by NIH Grant NS6277 to Dr. Engel.

Conflicts of interest

Dr. Lorenzo Maggi, Dr. Raffaella Brugnoni and Dr. Vidmer Saioli report no disclosures. Dr. Tom Winden is employed by a commercial laboratory that performs MUSK genetic testing. He has no conflicts of interest and received no financial gain from this work. Dr. Lucia Morandi has received Telethon grants #GUP08007A and #GUP 08004 and grant by Agenzia Italiana Farmaco (AIFA). Dr. Andrew Engel has received honorarium from the American Academy of Neurology for serving as Associate Editor of Neurology. Dr. Engel is supported by NIH Grant NS6277 and by a research grant from the MDA. Dr. Renato Mantegazza has served on a scientific advisory board for GlaxoSmithKline, Alexion, and BioMarin and has received funding for travel and speaker honoraria from Sanofi-Aventis, Merck-Serono and MEDA Pharmaceuticals Inc. Renato Mantegazza has also received funding from Italian Ministry of Health, years 2011–2012 (annual research funding), Regione Lombardia, PI, years 2010–2011, and Cariplo, PI, years 2009–2011. Dr. Bernasconi has received a speaker honorarium from MEDA Pharmaceuticals Inc.

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All human studies must state that they have been approved by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.

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Correspondence to Lorenzo Maggi.

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Maggi, L., Brugnoni, R., Scaioli, V. et al. Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK . J Neurol 260, 2894–2896 (2013). https://doi.org/10.1007/s00415-013-7118-5

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  • DOI: https://doi.org/10.1007/s00415-013-7118-5

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