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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Serum biomarkers in Duchenne muscular dystrophy: a leap toward precision diagnostics
1Department of Neurology and Clinical Pharmacology, Kabale University School of Medicine, Kabale.
Abstract:
I was interested to read the article by Dowling et al.1 in the European Journal of Translational Myology, where the authors provide a comprehensive review of serum biomarkers for Duchenne Muscular Dystrophy (DMD), a devastating early-onset muscle wasting disease. The emphasis of research on liquid biopsy-based approaches, with the application of Mass Spectrometry (MS)-based proteomics for the identification of novel biomarkers like carbonic anhydrase CA3, fatty acid binding protein FABP3, and titin fragments, represents a revolutionary step towards minimally invasive diagnostics. As a neurologist and clinical pharmacologist working in Uganda, where diagnosis of DMD is delayed owing to the limited access to invasive tests, I find the prospects of these biofluid-based markers not only intriguing but also of immense worth in advancing precision medicine in resource-poor settings. [...].
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