De Meirleir, 1998: 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.
2
3
n.a.
Global development delay
Muscular hypotonia (ictal)
Ataxia (ictal)
Ptosis
Ataxia
Muscular hypotonia
-Muscle weakness (ictal)
Dysphagia
Muscle weakness
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n.a.