<scp>RNA</scp> mis‐splicing in children with congenital myotonic dystrophy is associated with physical function
Our findings establish significant correlations between skeletal muscle performance and a composite measure of alternative splicing dysregulation, [MBNL]<sub>inferred</sub>, in DM1. The strength of these correlations and the development of predictive models will assist in designing efficacious clinical trials for individuals with DM1, particularly CDM.
Authors
- Nicholas E. Johnson (ORCID: https://orcid.org/0000-0002-3917-4257)
- Kameron Bates
- Kobe Ikegami (ORCID: https://orcid.org/0009-0000-9159-063X)
- Kayla Cornett (ORCID: https://orcid.org/0000-0002-9863-1040)
- Kiera N. Berggren (ORCID: https://orcid.org/0000-0001-6198-8153)
- J Hartman (ORCID: https://orcid.org/0000-0002-3610-0957)
- Aileen Jones (ORCID: https://orcid.org/0009-0003-2882-3025)
- Marnee J. McKay (ORCID: https://orcid.org/0000-0002-8126-3579)
- Jeanne Dekdebrun
- Joan Baldwin
- Michael Kiefer (ORCID: https://orcid.org/0000-0003-0891-2592)
- Melissa A. Hale
- Amanda Butler (ORCID: https://orcid.org/0009-0009-1809-3341)
- Marina Provenzano (ORCID: https://orcid.org/0009-0008-9781-1905)
- Joshua Burns (ORCID: https://orcid.org/0000-0001-7936-623X)
Institutions
- The University of Sydney (AU)
- Virginia Commonwealth University (US)
- Sydney Children’s Hospitals Network (AU)
- Children's Hospital of Richmond at VCU (US)
- University of Rochester (US)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2024-10-25
- DOI
- https://doi.org/10.1002/acn3.52224
- Citations
- 7
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.88
Funders
- Myotonic Dystrophy Foundation
- Muscular Dystrophy Association
- Novartis Pharmaceuticals Corporation
- Takeda Pharmaceutical Company
- U.S. Food and Drug Administration
- National Institute of Neurological Disorders and Stroke