When the involved gene is ubiquitously expressed, the enzymopathy may be associated to extra-hematological signs such neuromuscular abnormalities, myopathy and mental retardation, as in the case of triosephosphate isomerase (32, 33), phosphoglycerate kinase deficiency (34) and phosphofructokinase deficiency (35). This evidence concerns the gene TPI1 and myopathy.