Magner, 2011: Overview of all reported PxMD-PDHA1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
n.a.
|
0
|
15
|
No
|
Muscular hypotonia
-Spasticity (interictal) Cognitive impairment Dysarthria Global development delay Muscle weakness Muscular hypotonia (interictal) -Hypertonia (ictal) Seizures Cognitive impairment (interictal) Spasticity Muscle weakness (interictal) Seizures (interictal) Delayed cognitive development Dysarthria (interictal) Show more (+12) |
Muscular hypotonia
|
|
No
|
♂
|
C
|
n.a.
|
7
|
8
|
No
|
Seizures (interictal)
Muscle weakness (interictal) Dystonia (any or unspecified) -Dystonia (ictal) Muscle weakness Seizures Show more (+3) |
Seizures
|