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An 54-year-old patient with suspected polymyositis was examined. Biceps biopsy was performed. Light microscopy analysis revealed unchanged muscle fibers separated by a small amount of connective tissue. Ultrastructurally, swollen mitochondria were observed. They were characterized by total or partial lack of mitochondrial cristae. Fat droplets and lysosomes were visible. An enzymatic defect was suspected, which was confirmed by a biochemical examination of carnitine palmityltransferase (2,22nM/mgB/min).
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Operational Program Digital Poland, 2014-2020, Measure 2.3: Digital accessibility and usefulness of public sector information; funds from the European Regional Development Fund and national co-financing from the state budget.