Associated Papers
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
Mitsuhashi S et al.
Neuromuscular Disorders : Nmd, 2013
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Lemmers RJ et al.
Nature Genetics, 2012
Select a paper to view details