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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Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: American Academy of Neurology 2010
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Articles
Online dostop: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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