João Silva, 2009: Overview of all reported PxMD-PDHA1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
PRT
|
2
|
6
|
No
|
Ataxia
Ataxia (interictal) Muscle weakness Muscular hypotonia Muscle weakness (interictal) Cognitive impairment Delayed cognitive development Fatigue (interictal) Muscular hypotonia (interictal) Fatigue Global development delay Show more (+8) |
n.a.
|