As reviewed by Rinaldo et al. [39], disorders of fatty-acid metabolism caused by loss of function mutations to key pathway components, such as the fatty acid transporter (organic cation transporters novels; OCTNs and carnitine-acylcarnitine translocases; CACTs) and the acyl-coenzyme A dehydrogenases (very long-chain acyl-CoA dehydrogenases; VLCADs and short-chain acyl-CoA dehydrogenases SCADs), result in pathological conditions, including liver failure and cardiac and skeletal myopathy. This evidence concerns the gene ACADVL and Skeletal myopathy.