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Background and purpose
The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and clinical/molecular data.
Methods
Upper girdle and/or lower limb muscle magnetic resonance imaging scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centres were analysed...
Fascioscapulohumeral muscular dystrophy (FSHD) is associated with partial chromatin relaxation of the D4Z4 macrosatellite repeat array localized on chromosome 4 and transcriptional derepression of the D4Z4-encoded DUX4 retrogene in skeletal muscle. In most patients, D4Z4 chromatin relaxation and DUX4 expression results from a contraction of D4Z4 repeat array on a FSHD-permissive allele defined by...
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