Castiglioni, 2015: 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
|
n.a.
|
0
|
19
|
No
|
Muscular hypotonia (interictal)
Global development delay Muscular hypotonia -Dystonia (ictal) Dystonia (any or unspecified) Show more (+2) |
n.a.
|