K

R

KLOOSTER , Rinse

Last name: KLOOSTER

First name: Rinse

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