Giribaldi, 2012: 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.
|
3
|
12
|
n.a.
|
Dysphagia
Muscle weakness Muscle weakness (interictal) Ataxia (ictal) Ataxia -Muscle weakness (ictal) -Gait ataxia (ictal) Gait ataxia Show more (+5) |
Muscle weakness
Ataxia |