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
|
Cognitive impairment
Muscle weakness Delayed cognitive development Global development delay -Hypertonia (ictal) Seizures (interictal) Muscle weakness (interictal) Spasticity Cognitive impairment (interictal) Dysarthria (interictal) Dysarthria Muscular hypotonia Muscular hypotonia (interictal) -Spasticity (interictal) Seizures Show more (+12) |
Muscular hypotonia
|
|
No
|
♂
|
C
|
n.a.
|
7
|
8
|
No
|
Seizures
-Dystonia (ictal) Muscle weakness (interictal) Muscle weakness Seizures (interictal) Dystonia (any or unspecified) Show more (+3) |
Seizures
|