Giribaldi, 2012: 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.
3
12
n.a.
Dysphagia
Muscle weakness
Ataxia (ictal)
Gait ataxia
Muscle weakness (interictal)
-Muscle weakness (ictal)
Ataxia
-Gait ataxia (ictal)
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Muscle weakness
Ataxia