Fujii, 1994: Overview of all reported PxMD-PDHA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
n.a.
21
Yes
Dysarthria
Gait ataxia
-Gait ataxia (interictal)
Cognitive impairment (interictal)
Ataxia
Ataxia (interictal)
Cognitive impairment
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n.a.