| 1 | CMS1D, MUSK
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| Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
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| Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A.
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| Neuromuscul Disord 24(1):31-5. doi: 10.1016/j.nmd.2013.08.002. Epub 2013 Aug 7.
2014
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| 2 | CMS1D, DOK7, MUSK
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| Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
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| Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL.
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| Hum Mol Genet 19(12):2370-9. Epub 2010 Apr 6.PMID: 20371544 2010
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| 3 | DOK7, CMS1B, CMS1D, MUSK
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| Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
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| Hamuro J, Higuchi O, Okada K, Ueno M, Iemura S, Natsume T, Spearman H, Beeson D, Yamanashi Y.
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| J Biol Chem 283(9):5518-24. Epub 2007 Dec 29. 2008
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| 4 | MUSK, CMS1D
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| MUSK, a new target for mutations causing congenital myasthenic syndrome.
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| Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauche S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantai D.
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| Hum Mol Genet 13(24):3229-40. Epub 2004 Dec 15. 2004
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