João Silva, 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
C
PRT
2
6
No
Ataxia
Ataxia (interictal)
Muscle weakness
Muscular hypotonia
Muscle weakness (interictal)
Cognitive impairment
Delayed cognitive development
Fatigue (interictal)
Muscular hypotonia (interictal)
Fatigue
Global development delay
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n.a.