Utrophin correlates with disease severity in Duchenne muscular dystrophy
- PMID: 37060897
- DOI: 10.1016/j.medj.2023.03.005
Utrophin correlates with disease severity in Duchenne muscular dystrophy
Abstract
This month in Med, the description of an unusually severely affected DMD patient suffering from a large deletion in the dystrophin gene confirms that absence of utrophin worsens the dystrophy and supports the concept that utrophin upregulation ameliorates the pathology. This study may guide the development of dystrophin-based gene therapies.
Copyright © 2023 Elsevier Inc. All rights reserved.
Conflict of interest statement
Declarations of interest The authors declare no competing interests.
Comment on
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Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin.Med. 2023 Apr 14;4(4):245-251.e3. doi: 10.1016/j.medj.2023.02.005. Epub 2023 Mar 10. Med. 2023. PMID: 36905929
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