Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by a contraction of the D4Z4 array, whereas the ge...

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Detalles Bibliográficos
Autores principales: Lemmers, Richard J.L.F., Tawil, Rabi, Petek, Lisa M., Balog, Judit, Block, Gregory J., Santen, Gijs W.E., Amell, Amanda M., van der Vliet, Patrick J., Almomani, Rowida, Straasheijm, Kirsten R., Krom, Yvonne D., Klooster, Rinse, Sun, Yu, den Dunnen, Johan T., Helmer, Quinta, Donlin-Smith, Colleen M., Padberg, George W., van Engelen, Baziel G.M., de Greef, Jessica C., Aartsma-Rus, Annemieke M., Frants, Rune R., de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N., Bakker, Bert, Bamshad, Michael J., Tapscott, Stephen J., Miller, Daniel G., van der Maarel, Silvère M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3671095/
https://www.ncbi.nlm.nih.gov/pubmed/23143600
http://dx.doi.org/10.1038/ng.2454

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