Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication

DOI

10.1016/j.medj.2023.03.005

Type

Journal article

Journal

Med

Publication Date

14/04/2023

Volume

4

Pages

220 - 222

Keywords

Humans, Muscular Dystrophy, Duchenne, Dystrophin, Utrophin, Up-Regulation, Patient Acuity