Article
A focal domain of extreme demethylation within D4Z4 in FSHD2.
Neurology - 22 Jan 2013
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
Abstract excerpt
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 has been surveyed at 3 restriction enzyme sites in the first repeat and only a single site across the entire array,...
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