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the most common were McArdles disease, dystrophinopathy, -glucosidase deficiency, polymyositis, macrophagic myofasciitis, and various forms of LGMD (eg, dysferlinopathy, caveolinopathy, FKRP, or calpainopathy)

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While the study establishes a compelling systemic role for SLC25A45 in fuel switching, important questions remain regarding the tissue-specific contributions of this pathway and how carnitine biosynthesis and utilization are differentially regulated across dietary, disease, and sexually dimorphic contexts