ArticleAnnals of clinical and translational neurology2026
Reduced Muscular Carnosine in Proximal Myotonic Myopathy-A Pilot
Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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12 authors.
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Abstract
objectiveMyotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias. A hallmark feature is the selective degeneration of type-II fibers, likely driven by chronic myotonia and sustained metabolic stress. In this study, proton magnetic resonance spectroscopy (
methodsSeventy participants (27 genetically confirmed PROMM patients, 43 healthy volunteers) underwent localized
resultsPROMM patients showed significantly reduced carnosine compared with healthy volunteers (-50%, 0.05 ± 0.03 vs. 0.10 ± 0.05; p = 0.0022) and markedly elevated EMCL (threefold, 150.6 ± 80.5 vs. 48.6 ± 38.4; p = 0.0007). Intracellular pH did not differ between groups. Exploratory analysis revealed a negative correlation between carnosine and EMCL (r = -0.50, p = 0.03).
interpretationThis pilot study demonstrates that
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