Ito, 2015: Overview of all reported PxMD-SLC2A1 patients

Index patientSex Ethnicity Country of originAAO Family history Symptoms Initial symptoms Reported mutations
Yesn.g.JPN1YesAtaxia,
Athetosis,
Chorea,
Delayed cognitive development,
Dystonia,
Epileptic seizures (of any type),
Trigger: Exercise

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n.g.p.Ser324Leu: n.g.