Bahamonde, 2015: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ESP
|
7
|
7
|
n.a.
|
Muscular hypotonia
Muscular hypotonia (interictal) Ataxia Cerebellar atrophy Nystagmus Cognitive impairment (interictal) -Limb ataxia (interictal) Motor developmental delay Cognitive impairment Ataxia, limb Nystagmus (interictal) Ataxia (interictal) Show more (+9) |
n.a.
|