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Table 3 Extrahepatic manifestations in hepatocerebral MTDPS patients (n = 23)

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

ID Gene Neuromuscular Gastrointestinal Metabolism Others
DD Hy Sz Ny SG Id Psy FMD Dy WML FD Vo Di FTT Hg LA Ht PH CM Ur
Pt68EB MPV17 + + + + + +
Pt68YB MPV17 + + +
Pt292 MPV17 + + + + + + + +
Pt339 MPV17 + + + + + + +
Pt936 MPV17 + + + + + + + + +
Pt1244 MPV17 + + + + + + + +
Pt1273 MPV17 + NA + + + + + + +
Pt1702 MPV17 + + + + + + + + +
Pt1943 MPV17 + + + + + + +
Pt2017EB MPV17 + + + +
Pt2017YS MPV17 + +
Pt2017ES MPV17 + +
Pt2170 MPV17 + + + + + + + + +
Pt50YS DGUOK NA NA + + +
Pt50ES DGUOK + + + NA + NA NA
Pt66 DGUOK + + + NA + + + +
Pt74 POLG + + + + + + +
Pt94 MICOS13 + + +
Pt63 ND + + + +
Pt92 ND NA + NA
Pt148 ND + + + + + +
Pt1156 ND + NA + + +
Pt1589 ND + NA NA NA NA NA NA NA NA NA NA NA NA + NA NA NA
  Total 13/23 8/22 4/23 2/22 2/22 3/22 1/22 1/22 1/22 5/16 11/23 10/22 5/22 18/21 15/21 16/21 1/23 5/22 1/22 1/22
  1. CM, cardiomyopathy; DD, developmental delay; Di, diarrhea; Dy, dysarthria; EB, elder brother; ES, elder sister; FD, feeding difficulties; FMD, fine motor dysfunction; FTT, failure to thrive; Hg, hypoglycemia; Ht, hypothermia; Hy, hypotonia; Id, intellectual disability; LA, lactic acidosis; NA, not available; ND, not detected; Ny, nystagmus; PH, pulmonary hypertension; Psy, psychosis; SG, spastic gait; Sz, seizure; Ur, urolithiasis; Vo, vomiting; WML, white matter lesion; YB, younger brother; YS, younger sister
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