Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Facioscapulohumeral muscular dystrophy (FSHD) predominantly affects the muscles in the face, trunk and upper extremities and is marked by large clinical variability in disease onset and progression. FSHD is associated with partial chromatin relaxation of the D4Z4 repeat array on chromosome 4 and the...

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Pubblicato in:Eur J Hum Genet
Autori principali: van den Boogaard, Marlinde L, JFL Lemmers, Richard, Camaño, Pilar, van der Vliet, Patrick J, Voermans, Nicol, van Engelen, Baziel GM, Lopez de Munain, Adolfo, Tapscott, Stephen J, van der Stoep, Nienke, Tawil, Rabi, van der Maarel, Silvère M
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795239/
https://ncbi.nlm.nih.gov/pubmed/25782668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.55
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