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.
Journal article
Med
14/04/2023
4
220 - 222
Humans, Muscular Dystrophy, Duchenne, Dystrophin, Utrophin, Up-Regulation, Patient Acuity