Genetic & Genomic MedicinemedRxivPreprint
Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophy
Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito…·Ichizo Nishino
This study uses Nanopore CRISPR/Cas9-targeted resequencing to diagnose FSHD by detecting D4Z4 repeat length and methylation status, finding significant hypomethylation in contracted repeats and its correlation with disease phenotype.
DOI 10.1101/2022.06.24.22276750