<p>The overarching goal of this project was to identify changes in methylation patterns in Duchenne muscular dystrophy (DMD) patients with discordant symptoms using whole genome bisulfite sequencing (WGBS) from genomic DNA isolated from whole serum. DMD siblings (biological brothers) had the same genetic mutation in the dystrophin gene but with discordance in symptoms such as ambulation, cardiopulmonary function, and cognition. Trios (DMD sibling brothers and biological mother or father) and quartets (DMD sibling brothers and biological mother and father) were recruited for this study for intra- and inter-familial comparisons of the methylation of gene bodies.<br></p>

Cognitively Affected DMD Patients have Unique Methylation Signatures    Compared to Cognitively Normal DMD Patients

Methylation study with Bisulfite-Seq data on dbGaP (15 participants)

Selected Publications — phs003118 — Cognitively Affected DMD Patients have Unique Methylation Signatures    Compared to Cognitively Normal DMD Patients