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The Duchenne brain
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness caused by DMD gene mutations leading to absence of the full-length
dystrophin protein in muscle. Multiple dystrophin isoforms are expressed in brain, but little is known about their function. DMD is associated with specific learning and behavioral disabilities which are more prominent in patients with mutations in the distal part of the DMD gene, predicted to affect expression of shorter protein isoforms. The aim of this thesis was to provide a detailed description of the structural, perfusion and metabolic differences in the brain between patients with DMD and healthy age-matched
controls and to assess the role of dystrophin isoforms.
- All authors
- Doorenweerd, N.
- Supervisor
- Verschuuren, J.J.G.M.
- Co-supervisor
- Kan, H.E.; Hendriksen, J.G.M.
- Committee
- Maarel, S.M. van der; Engelen, B. van; Pouwels, P.J.W.
- Qualification
- Doctor (dr.)
- Awarding Institution
- Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University
- Date
- 2017-06-28
- ISBN (print)
- 9789082678413
Funding
- Sponsorship
- Duchenne Parent Project, The Netherlands Gratama Foundation, The Netherlands Philips Healthcare, The Netherlands