Article
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
Neuromuscular disorders : NMD - 1 Dec 2013
Mitsuhashi Satomi, Boyden Steven E, Estrella Elicia A, Jones Takako I, Rahimov Fedik, Yu Timothy W, Darras Basil T, Amato Anthony A, Folkerth Rebecca D, Jones Peter L, Kunkel Louis M, Kang Peter B
Abstract excerpt
FSHD2 is a rare form of facioscapulohumeral muscular dystrophy (FSHD) characterized by the absence of a contraction in the D4Z4 macrosatellite repeat region on chromosome 4q35 that is the hallmark of FSHD1. However, hypomethylation of this region is common to both subtypes. Recently, mutations in SMCHD1 combined with a permissive 4q35 allele were reported to cause FSHD2. We identified a novel p.Lys275del SMCHD1...
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