Okajima, 2006: 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.
|
0
|
7
|
n.a.
|
Microcephaly
Seizures Cognitive impairment (interictal) Fatigue Muscular hypotonia Spasticity Global development delay Seizures (ictal) Delayed cognitive development Cognitive impairment Tremor (any or unspecified) Show more (+8) |
n.a.
|