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Facioscapulohumeral Muscular Dystrophy and DUX4: Breaking the Silence

Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene in the D4Z4 rep...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: van der Maarel, Silvère M, Tawil, Rabi, Tapscott, Stephen J.
Format: Artigo
Langue:Inglês
Publié: 2011
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3092836/
https://ncbi.nlm.nih.gov/pubmed/21288772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.molmed.2011.01.001
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