Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study
This study provides an overview of hepatic involvement in a large group of ADCNM and XLMTM patients. Findings suggest an underlying liver pathology may impact tolerability of therapeutic approaches, and will be important to consider for future trial design and clinical management. The results of DNM2 protein expression warrant further investigations on the role of DNM2 in the liver if it is to be used as a therapeutic target.
Authors
- C Freitag
- John Vissing (ORCID: https://orcid.org/0000-0001-6144-8544)
- Michela Guglieri (ORCID: https://orcid.org/0000-0002-8455-0637)
- S Colombo
- Lisa T. Eyler (ORCID: https://orcid.org/0000-0002-7783-8798)
- Federica Montagnese (ORCID: https://orcid.org/0000-0002-7291-5408)
- Ulrike Schara‐Schmidt (ORCID: https://orcid.org/0000-0001-5833-2751)
- Andrew Dhawan (ORCID: https://orcid.org/0000-0002-5027-1277)
- Belinda S. Cowling (ORCID: https://orcid.org/0000-0001-6915-2596)
- Leen Thielemans
- MW Lawlor
- Jonathan Baets (ORCID: https://orcid.org/0000-0001-8295-5385)
- Karlijn Bouman (ORCID: https://orcid.org/0000-0003-4964-3077)
- Danielle M. Nijkamp
- Rosaline C. M. Quinlivan (ORCID: https://orcid.org/0000-0002-2306-4782)
- NC Voermans
Institutions
- University of Copenhagen (DK)
- Radboud University Nijmegen (NL)
- University of Liverpool (GB)
- University of Antwerp (BE)
- Medical College of Wisconsin (US)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- Walton Centre (GB)
- Radboud University Medical Center (NL)
- Antwerp University Hospital (BE)
- Friedrich Baur Stiftung (DE)
- MRC Prion Unit (GB)
- King's College Hospital (GB)
- University College London (GB)
- Ludwig-Maximilians-Universität München (DE)
- Newcastle University (GB)
Publication Details
- Journal
- Journal of Neuromuscular Diseases
- Published
- 2025-04-24
- DOI
- https://doi.org/10.1177/22143602251329215
- Primary Topic
- Ubiquitin and proteasome pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Myotubular Trust