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; A. G. Engel; R. Mantegazza; P. Bernasconi

doi:10.1007/s00415-013-7118-5

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, A. G. Engel, R. Mantegazza, P. Bernasconi

Neurology

Research output: Contribution to journal › Letter › peer-review

19 Scopus citations

Original language	English (US)
Pages (from-to)	2894-2896
Number of pages	3
Journal	Journal of Neurology
Volume	260
Issue number	11
DOIs	https://doi.org/10.1007/s00415-013-7118-5
State	Published - Nov 2013

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1007/s00415-013-7118-5

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@article{75657733747647628f0123754ea3a9e3,

title = "Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK",

author = "Lorenzo Maggi and R. Brugnoni and V. Scaioli and Winden, {T. L.} and L. Morandi and Engel, {A. G.} and R. Mantegazza and P. Bernasconi",

note = "Funding Information: 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. Funding Information: This work was supported in part by NIH Grant NS6277 to Dr. Engel. ",

year = "2013",

month = nov,

doi = "10.1007/s00415-013-7118-5",

language = "English (US)",

volume = "260",

pages = "2894--2896",

journal = "Journal of Neurology",

issn = "0340-5354",

publisher = "D. Steinkopff-Verlag",

number = "11",

}

TY - JOUR

T1 - Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK

AU - Maggi, Lorenzo

AU - Brugnoni, R.

AU - Scaioli, V.

AU - Winden, T. L.

AU - Morandi, L.

AU - Engel, A. G.

AU - Mantegazza, R.

AU - Bernasconi, P.

N1 - Funding Information: 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. Funding Information: This work was supported in part by NIH Grant NS6277 to Dr. Engel.

PY - 2013/11

Y1 - 2013/11

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U2 - 10.1007/s00415-013-7118-5

DO - 10.1007/s00415-013-7118-5

M3 - Letter

AN - SCOPUS:84889602244

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SP - 2894

EP - 2896

JO - Journal of Neurology

JF - Journal of Neurology

IS - 11

ER -

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

ASJC Scopus subject areas

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