A focal domain of extreme demethylation within D4Z4 in FSHD2

OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease with an unclear genetic mechanism. Most patients have a contraction of the D4Z4 macrosatellite repeat array at 4qter, which is thought to cause partial demethylation (FSHD1) of the contracted allele. Demethylation ha...

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Autori principali: Hartweck, Lynn M., Anderson, Lindsey J., Lemmers, Richard J., Dandapat, Abhijit, Toso, Erik A., Dalton, Joline C., Tawil, Rabi, Day, John W., van der Maarel, Silvère M., Kyba, Michael
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3589240/
https://ncbi.nlm.nih.gov/pubmed/23284062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31827f075c
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