Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Author(s):
Lemmers, R.J.L.F.; Tawil, R.; Petek, L.M.; Balog, J.; Block, G.J.; Santen, G.W.E.; Amell, A.M.; Vliet, P.J. van der; Almomani, R.; Straasheijm, K.R.; Krom, Y.D.; Klooster, R.; Sun, Y.; Dunnen, J.T. den (0000-0002-6304-1710); Helmer, Q.; Donlin-Smith, C.M.; Padberg, G.W.; Engelen, B.G.M. van; Greef, J.C. de (0000-0002-2819-6098); Aartsma-Rus, A.M.; Frants, R.R.; Visser, M. de; Desnuelle, C.; Sacconi, S.; Filippova, G.N.; Bakker, B.; Bamshad, M.J.; Tapscott, S.J.; Miller, D.G.; Maarel, S.M. van der (0000-0001-8103-711X)
Published
2012
Publication type
Article / Letter to editor
Date issued
2012-12-31
Language
English
Is part of
Nature Genetics (2012), Vol. 44, no. 12, p. 1370-1374
hdl
1887/97729
doi
10.1038/ng.2454