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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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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2011
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| Schlagworte: | |
| Online Zugang: | 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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