Wexler, 1992: Overview of all reported PxMD-PDHA1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
2
|
4
|
Yes
|
Muscular hypotonia
Ptosis Ataxia -Muscle weakness (ictal) Global development delay Muscle weakness Show more (+3) |
Muscle weakness
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
2
|
Yes
|
Ataxia
Seizures -Muscle weakness (ictal) Muscle weakness Global development delay Microcephaly Muscular hypotonia Show more (+4) |
Seizures
|