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.
Gait ataxia
Ataxia
-Muscle weakness (ictal)
-Gait ataxia (ictal)
Muscle weakness (interictal)
Muscle weakness
Ataxia (ictal)
Dysphagia
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Ataxia
Muscle weakness