Figure 1.
Relationship between the disease causing genes and phenotypes. (A) In general, defects in different genes may converge to the same symptoms, with multiple disease phenotypes potentially observed at even the same defect of one gene. (B) Illustration of the relationship in (A) by specific case of congenital lactic acidosis and its phenotypes caused by impairments of the pyruvate dehydrogenase multienzyme complex due to defective genes PDHA and PDHX, encoding for the α-subunit of the pyruvate dehydrogenase and protein X, correspondingly. See text for further explanations.
