Fujii, 1996: 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.
1
4
No
Ataxia (ictal)
-Muscle weakness (ictal)
Muscle weakness
Short stature
Ataxia
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n.a.
Yes
n.a.
n.a.
n.a.
15
No
Ataxia
Ataxia (interictal)
Muscular hypotonia
Nystagmus
Muscle weakness (interictal)
Muscle weakness
Show more (+3)
Muscular hypotonia
p.S388insn.g.