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DE GREEF , Jessica C

Last name: DE GREEF

First name: Jessica C

October 7, 2011 (v1)

Journal article

Metadata-only

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

Sacconi, Sabrina Camaño, Pilar de Greef, Jessica C

ObjectiveTo identify the genetic and epigenetic defects in patients presenting with a facioscapulohumeral (FSHD) clinical phenotype without D4Z4 contractions on chromosome 4q35 tested by linear gel electrophoresis and Southern blot analysis.Design and patientsThe authors studied 16 patients displaying an FSHD-like phenotype, with normal...

Uploaded on: December 3, 2022
November 11, 2012 (v1)

Journal article

Metadata-only

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

Lemmers, Richard J L F Tawil, Rabi Petek, Lisa M

Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants and inheritance of D4Z4 array...

Uploaded on: December 4, 2022