Review
Open access
Aug 2026
Biallelic SIGMAR1 variants in early-onset distal hereditary motor neuropathy: A Japanese case series
The findings expand the clinical and genetic spectrum of SIGMAR1-associated disease and support its classification as dHMN rather than ALS, particularly in patients with dHMN accompanied by pyramidal features.
Kento Kodama, M. Ando, Y. Higuchi et al.
· Journal of Neuromuscular Dis... · 0 citations