A

M

ARNÉ-BES , Marie-Christine

Last name: ARNÉ-BES

First name: Marie-Christine

2015 (v1)

Journal article

Metadata-only

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Salort Campana, Emmanuelle Nguyen, Karine Bernard, Rafaelle

Background: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging...

Uploaded on: February 28, 2023