Phenotypic Spectrum of DNM2 -Related Centronuclear Myopathy.
Leslie Hotchkiss HayesMorgane PerdominiAsli AykanatCasie A GenettiHeather L PatersonBelinda S CowlingChristian FreitagAlan H BeggsPublished in: Neurology. Genetics (2022)
-related CNM has a predominantly early-onset, often congenital, myopathy resulting in progressive difficulty with ambulation and occasionally bulbar and respiratory dysfunction. This detailed characterization of the phenotype provides important information to support clinical trial readiness for future disease-modifying therapies.