Abstract
Lipid storage myopathies are a clinically and genetically heterogeneous group of muscle diseases characterized by an accumulation of lipid in skeletal muscle. Currently four different groups of lipid storage myopathies are described: primary carnitine deficiency (PCD), multiple acyl-CoA dehydrogenase deficiency, primary and secondary coenzyme Q10 deficiency and neutral lipid storage diseases. It might be due to their rareness and considerable clinical variability that these disorders are frequently disregarded in neurological differential diagnosis. This article provides a synopsis of several new aspects of pathophysiology, symptoms, diagnostic tools and current therapeutic approaches of lipid storage myopathies.
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