Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
Dana Safka-BrozkovaT StojkovicJ HaberlováR MazanecR WindhagerP Fernandes RoseneggerS HackerS ZüchnerA KochańskiS Leonard-LouisB FrancouP LatourJ SenderekP SeemanM Auer-GrumbachPublished in: European journal of neurology (2020)
Our study confirms the relevance of FBLN5 mutations in CMT1. It is proposed to include FBLN5 in the genetic work-up of individuals suspected with CMT1, particularly when diagnosis is established beyond the first and second decade and comparably moderate motor deficits contrast with early and marked sensory involvement. FBLN5-associated CMT1 has a recognizable clinical phenotype and should be referred to as CMT1H according to the current classification scheme.