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Table 2 Liver manifestations in 23 hepatocerebral MTDPS patients

From: Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

ID Gene Cholestasis Hepatomegaly Fatty liver Fibrosis Liver failure Tumor AFP (ng/mL)
Pt68EB MPV17 + + + + + NA
Pt68YB MPV17 + + + HCC 24,000
Pt292 MPV17 + + + + 219,980
Pt339 MPV17 + + + + + 24.9
Pt936 MPV17 + + + + + 315,521
Pt1244 MPV17 + + + + + 503,320
Pt1273 MPV17 + + + + + 93,619
Pt1702 MPV17 + + + + NA
Pt1943 MPV17 + + + NA
Pt2017EB MPV17 + + + + + multiple hepatic nodules 413
Pt2017YS MPV17 + + + multiple hepatic nodules 3078
Pt2017ES MPV17 + + + HCC 1332
Pt2170 MPV17 + + + + + 60,500
Pt50YS DGUOK + + + NA
Pt50ES DGUOK + NA
Pt66 DGUOK + + + + NA
Pt74 POLG + + + + + NA
Pt94 MICOS13 + + + + + NA
Pt63 ND + + + + 200,000
Pt92 ND + + + + > 50,000
Pt148 ND + + + 8400
Pt1156 ND + + + + + NA
Pt1589 ND NA NA NA NA
  1. AFP, α-fetoprotein; EB, elder brother; ES, elder sister; HCC, hepatocellular carcinoma; NA, not available; ND, not detected; YB, younger brother; YS, younger sister