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