Browse by author
Lookup NU author(s): Emerita Professor Katherine Bushby,
Professor Hanns Lochmuller,
Dr Stephen Lynn,
Professor Volker StraubORCiD
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
Muscular dystrophies are individually rare genetic disorders that cause much chronic disability, affecting young children and adults. In the past 20 years, more than 30 genetic types of muscular dystrophy have been defined. During this time, precise diagnosis, genetic counselling, and medical management have improved. These advances in medical practice have occurred while definitive therapies based on an improved knowledge of disease pathogenesis are awaited. A wide range of therapeutic options have been tested in animal models, and some are being tested in clinical trials. Various therapeutic targets are being investigated, from personalised medicines targeting specific mutations and drugs targeting cellular pathways to gene-based and cell-based therapies.
Author(s): Bushby K, Lochmuller H, Lynn S, Straub V
Publication type: Review
Publication status: Published
ISSN (print): 0140-6736
ISSN (electronic): 1474-547X