Dong, 2019: Overview of all reported PxMD-PDHA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
CHN
3
6
n.a.
-Gait ataxia (ictal)
Gait ataxia
Ataxia (ictal)
Ataxia
Ataxia, limb
Global development delay
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Ataxia