Fujii, 1996: Overview of all reported PxMD-PDHA1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
4
|
No
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
15
|
No
|
Muscle weakness
Ataxia Muscular hypotonia Muscle weakness (interictal) Nystagmus Ataxia (interictal) Show more (+3) |
Muscular hypotonia
|