A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation.
Xin XuFen LuSenjie DuLi Zhang
Published in: BMC pediatrics (2024)
In this study, we retrospectively analyzed the clinical and molecular genetic findings of a child with Charcot-Marie-Tooth disease A2 with central nervous system involvement as the initial presentation, and explored its pathogenic mechanism.