Bachmann-Gagescu, 2009: 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.
7
18
n.a.
Ataxia (interictal)
Dysarthria
Muscle weakness
-Limb ataxia (interictal)
Ataxia, limb
Dysarthria (ictal)
Ataxia (ictal)
Ataxia
Chorea
Hemiplegia
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Muscle weakness