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Abstract Primary mitochondrial myopathies (PMM) are rare, genetically-defined disorders characterised by defects of oxidative phosphorylation, predominantly affecting skeletal muscle. This Phase 1b open-label trial evaluated mavodelpar, a selective peroxisome proliferator-activated receptor delta (PPARδ) agonist, over 12 weeks (Part A), with an optional 36 week extension (Part B) in adults with PMM.
Keywords ataxia ATG12 autophagy cerebellar hypoplasia global developmental delay Introduction Autophagy is a cellular degradation and recycling process that sustains eukaryotic homeostasis.
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