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