Phenotype and biomarkers in women carrying pathogenic DMD gene variants

PhD defence by Zhe Lyu

Assessment Committee

Professor Abigail Mackey, Department of Clinical Medicine, University of Copenhagen (Chairperson)
Dr Erik Harmen Niks, Leiden University Medical Center, Department of Neurology
Professor Michela Guglieri, Newcastle University

Supervisors

Clinical Professor John Vissing
Senior Researcher Thomas Krag

Department

Department of Clinical Medicine

Graduate Programme

Neuroscience

Place

Building: Panum, Building 20, Room: Adolf Hannover Auditorium, Blegdamsvej 3B, 2200 Copenhagen N

Email address to gain access to the thesis: zhe.lyu@hotmail.com.
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Short description of the thesis

Women carrying pathogenic variants in the dystrophin (DMD) gene may develop skeletal muscle and cardiac involvement, but the severity varies widely among individuals. Across five studies, this thesis examines their long-term course and explores imaging, circulating, and muscle-based biomarkers. Over six to seven years, skeletal muscle involvement generally progressed slowly and cardiac findings remained largely stable, although individual outcomes varied. Cardiac involvement did not parallel skeletal muscle involvement, supporting independent cardiac assessment. Global myocardial fat fraction was not increased compared with healthy controls. Plasma proteins emerged as candidate markers of muscle involvement and progression, while reference-allele DMD transcript abundance was associated with walking performance. These findings support individualized assessment, while the candidate biomarkers require further validation.