The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4 to a size of 1–10 units. The residual number of D4Z4 units inversely correlates with clinical severity, but significant clinical variability exists. Each unit contains a copy of th...

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Main Authors: Sacconi, Sabrina, Lemmers, Richard J.L.F., Balog, Judit, van der Vliet, Patrick J., Lahaut, Pauline, van Nieuwenhuizen, Merlijn P., Straasheijm, Kirsten R., Debipersad, Rashmie D., Vos-Versteeg, Marianne, Salviati, Leonardo, Casarin, Alberto, Pegoraro, Elena, Tawil, Rabi, Bakker, Egbert, Tapscott, Stephen J., Desnuelle, Claude, van der Maarel, Silvère M.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2013
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3791262/
https://ncbi.nlm.nih.gov/pubmed/24075187
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.08.004
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