Lipid storage myopathies can be caused by genetic variants in genes that encode enzymes involved in muscle fatty acid metabolism (Fig. 1) and include among others neutral lipid storage disease, lipin-1 deficiency, carnitine deficiency, and multiple acyl-CoA dehydrogenase deficiency (MADD) [2]. This evidence concerns the gene LPIN1 and multiple acyl-CoA dehydrogenase deficiency.