A focal domain of extreme demethylation within D4Z4 in FSHD2

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 has been surv...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Neurology 2013-01, Vol.80 (4), p.392-399
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Chromatin - genetics Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 4 CpG Islands - genetics DNA Methylation - genetics Homeodomain Proteins - genetics Humans Medical sciences Muscular Dystrophy, Facioscapulohumeral - genetics Myoblasts - physiology Neurology Phenotype Restriction Mapping Vascular diseases and vascular malformations of the nervous system
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!