Abnormal fatty acid metabolism is a feature of spinal muscular atrophy

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Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by paralysis and muscle weakness. Recent evidence suggests that SMA is a multi-organ disease. We have previously shown abnormal glucose homeostasis due to altered pancreatic islet cell distribution in SMA mouse models and in human patients. Here, we have assessed whether liver and/or skeletal muscle lipid metabolic defects are present in SMA. A thorough characterization of gross, histological and molecular changes in the liver and skeletal muscle from SMA model mice was performed.

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