Article
Clinical features of facioscapulohumeral muscular dystrophy 2.
Neurology - 26 Oct 2010
de Greef J C, Lemmers R J L F, Camaño P, Day J W, Sacconi S, Dunand M, van Engelen B G M, Kiuru-Enari S, Padberg G W, Rosa A L, Desnuelle C, Spuler S, Tarnopolsky M, Venance S L, Frants R R, van der Maarel S M, Tawil R
Abstract excerpt
OBJECTIVE: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4Z4 contractions (FSHD1). This commonality suggests that a change in D4Z4 chromatin structure unifies FSHD1 and...
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