%0 Journal Article
%T Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy
%A Antonia Alberti
%A Carlos Casasnovas
%A Carmen Espin¨®s
%A Celedonio M¨¢rquez-Infante
%A Cristina Tello
%A Francisco Garc¨ªa-Garc¨ªa
%A Joaqu¨ªn Dopazo
%A Liliana Villarreal
%A Mar Garc¨ªa-Romero
%A Paula Sancho
%A Rafael Sivera
%A Samuel I. Pascual-Pascual
%A Teresa Sevilla
%A Vincenzo Lupo
%J The Journal of Molecular Diagnostics
%D 2016
%R 10.1016/j.jmoldx.2015.10.005
%X Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50
known disease-associated genes. Mutations in some of these genes can cause a pure
motor form of hereditary motor neuropathy, the genetics of which are poorly characterized.
We designed a panel comprising 56 genes associated with Charcot-Marie-Tooth disease/hereditary
motor neuropathy. We validated this diagnostic tool by first testing 11 patients with
pathological mutations. A cohort of 33 affected subjects was selected for this study.
%U https://jmd.amjpathol.org/article/S1525-1578(15)00261-5/fulltext