Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
47
|
50
|
No
|
Lower limb muscle weakness
Nerve conduction studies other abnormalities Spasticity, lower limb |
n.a.
|