Neutral lipid storage disease with myopathy (NLSD-M, OMIM #610717) is a rare autosomal recessive disorder caused by mutations in the PNPLA2 gene that maps to chromosome 11, reducing normal expression or function of the ATGL protein and leading to the accumulation of triglycerides in various tissues [75]. This evidence concerns the gene PNPLA2 and neutral lipid storage myopathy.