Neuromuscular transmission deficits in patients with <scp>CMT</scp> and <scp>ClC</scp>‐1 inhibition in <scp>CMT</scp> animal models
Our study suggests that NMJ dysfunction contributes to muscle dysfunction in patients with CMT 1 and 2. Furthermore, our preclinical data provide proof-of-mechanism for recovery of muscle function with ClC-1 inhibition in CMT mouse models. Collectively, these findings suggest that targeting NMJ dysfunction with ClC-1 inhibitors could enhance muscle function in CMT patients, warranting further clinical trials.
Authors
- Andrea Jaworek
- Nathan R. Kerr (ORCID: https://orcid.org/0000-0003-3180-4098)
- William David Arnold (ORCID: https://orcid.org/0000-0001-9889-7036)
- Martin Skov (ORCID: https://orcid.org/0000-0003-4449-472X)
- Kristina Kelly (ORCID: https://orcid.org/0000-0002-2151-0873)
- Hatice Tankişi (ORCID: https://orcid.org/0000-0001-8495-9769)
- Thomas Skjærlund Grønnebæk
- Henning Andersen
- Jose A. Viteri (ORCID: https://orcid.org/0000-0001-5259-0207)
- Thomas Holm Pedersen (ORCID: https://orcid.org/0000-0002-1060-4989)
- Jorge A. Quiroz (ORCID: https://orcid.org/0000-0003-3937-0669)
- Amy Bartlett
- Jane Bold
- John B. Hutchison
- Helga Haahr‐Lillevang
Institutions
- Aarhus University (DK)
- Aarhus University Hospital (DK)
- The Ohio State University (US)
- University of Missouri (US)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2024-12-13
- DOI
- https://doi.org/10.1002/acn3.52252
- Citations
- 3
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.80