NeuroscienceHuman Molecular GeneticsPeer-reviewed
The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E
Dennis O. Pérez‐López, Audrey A. Shively, F. Javier Llorente Torres…·Christian L. Lorson
This paper characterizes motor function deficits, muscle pathology, and breathing abnormalities in NeflE397K mice, showing progressive disease severity with genotype.
DOI 10.1093/hmg/ddaf080