| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
4
|
n.a.
|
Upper limb amyotrophy
-Lower limb amyotrophy Central motor conduction time abnormality Babinski sign Lower limb muscle weakness Pes cavus -Pure or uncomplicated Nerve conduction studies other abnormalities Peripheral neuropathy on nerve conduction studies Spasticity, lower limb Show more (+7) |
n.a.
|