Clinical features of facioscapulohumeral muscular dystrophy 2 [Image: see text]

OBJECTIVE: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4...

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Hlavní autoři: de Greef, J.C., Lemmers, R.J.L.F., Camaño, P., Day, J.W., Sacconi, S., Dunand, M., van Engelen, B.G.M., Kiuru-Enari, S., Padberg, G.W., Rosa, A.L., Desnuelle, C., Spuler, S., Tarnopolsky, M., Venance, S.L., Frants, R.R., van der Maarel, S.M., Tawil, R.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Academy of Neurology 2010
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Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2974464/
https://ncbi.nlm.nih.gov/pubmed/20975055
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181f96175
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