Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot <scp> <sup>1</sup> H </scp> ‐ <scp>MRS</scp> Study
This pilot study demonstrates that <sup>1</sup>H-MRS can detect reduced intramuscular carnosine in PROMM, consistent with selective type-II-fiber loss. Carnosine thus emerges as a potential in vivo biomarker of fiber-type-specific degeneration. Validation in larger, longitudinal cohorts is warranted to establish its clinical and translational relevance.
Authors
- Anne Kölsch
- Alexander Gussew (ORCID: https://orcid.org/0000-0003-2300-4883)
- Dietrich Stoevesandt (ORCID: https://orcid.org/0000-0001-5105-4488)
- Alexander Mensch (ORCID: https://orcid.org/0000-0003-0089-4473)
- Thomas Kendzierski
- Markus Otto (ORCID: https://orcid.org/0000-0003-4273-4267)
- Andreas Deistung (ORCID: https://orcid.org/0000-0002-2427-1302)
- David Strube
- Maik Rothe
- Walter Alexander Wohlgemuth (ORCID: https://orcid.org/0000-0002-8076-6000)
- Maurits Gerhard Abraham Heuschen
- Maryam Kargaran
Institutions
- Halle Zoo (DE)
- Management Institut Bochum (Germany) (DE)
- University Hospital in Halle (DE)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-11-25
- DOI
- https://doi.org/10.1002/acn3.70263
- Primary Topic
- Biochemical effects in animals
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsche Forschungsgemeinschaft