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