Open access
Sep 2026
De Novo Facioscapulohumeral Muscular Dystrophy
Background and Objectives Facioscapulohumeral muscular dystrophy (FSHD) includes approximately 10%–30% sporadic cases, where de novo pathogenic variants are hypothesized to be associated with more severe phenotypes. However, the systematic clinical characteristics and natural history of these cases remain poorly define...
Qi-Fang He, Xiao-Dan Lin, Yu-Hua Lin et al.
· Neurology: Genetics · 0 citations