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Clinical features of facioscapulohumeral muscular dystrophy 2.
J C de Greef
1 ,
R J L F Lemmers ,
P Camaño ,
J W Day ,
S Sacconi ,
M Dunand ,
B G M van Engelen ,
S Kiuru-Enari ,
G W Padberg ,
A L Rosa ,
C Desnuelle ,
S Spuler ,
M Tarnopolsky ,
S L Venance ,
R R Frants ,
S M van der Maarel ,
R Tawil
Oct 26 2010
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Abstract
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 FSHD2. The aim of our study was to critically evaluate the clinical features in patients with FSHD2 in order to establish whether these patients are phenotypically identical to FSHD1 and to establish the effects of the (epi-) genotype on the phenotype.