Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.
Elena AbatiStefania MagriMegi MeneriGiulia ManentiDaniele VelardoFrancesca BalistreriChiara PisciottaPaola SaveriNereo BresolinGiacomo Pietro ComiDario RonchiDavide PareysonFranco TaroniStefania CortiPublished in: Annals of clinical and translational neurology (2021)
Thus, we report for the first time two cases of biallelic HSPB1 p.S135F and p.R136L mutations in two families.