Journal article
Clinical features of facioscapulohumeral muscular dystrophy 2(CME)
Abstract
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 D4Z4 contractions (FSHD1). This commonality suggests that a change in D4Z4 chromatin structure unifies FSHD1 and FSHD2. The aim of our study was to …
Authors
de Greef JC; Lemmers RJLF; Camaño P; Day JW; Sacconi S; Dunand M; van Engelen BGM; Kiuru-Enari S; Padberg GW; Rosa AL
Journal
Neurology, Vol. 75, No. 17, pp. 1548–1554
Publisher
Wolters Kluwer
Publication Date
October 26, 2010
DOI
10.1212/wnl.0b013e3181f96175
ISSN
0028-3878
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AdolescentAdultChildChild, PreschoolChromosomes, Human, Pair 4Cohort StudiesCross-Sectional StudiesDNA MethylationDNA Repeat ExpansionFamily HealthFemaleGenotypeHumansInfantInfant, NewbornMaleMicrofilament ProteinsMiddle AgedMuscular Dystrophy, FacioscapulohumeralNuclear ProteinsPhenotypePolymorphism, GeneticRNA-Binding ProteinsYoung Adult