S

G

SOLE , Guilhem

Last name: SOLE

First name: Guilhem

March 2020 (v1)

Journal article

Metadata-only

Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

Salort-Campana, Emmanuelle Fatehi, Farzad Beloribi-Djefaflia, Sadia

Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared (1) the phenotype and severity of FSHD1 between patients carrying 6-8 vs. 9-10 RUs, (2) the amount of methylation in different D4Z4 regions...

Uploaded on: December 4, 2022