Tonelli, 2006: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
1
3
n.a.
Cognitive impairment
Ataxia
Gait ataxia
Ataxia, limb
Muscular hypotonia
Nystagmus
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Gait ataxia