title: Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.
authors.affiliation: 1 Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic petra.lassuthova@gmail.com.
authors.forename: Petra
authors.initials: P
authors.lastname: Laššuthová
authors.affiliation: 1 Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Dana
authors.initials: D
authors.lastname: Šafka Brožková
authors.affiliation: 1 Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Marcela
authors.initials: M
authors.lastname: Krůtová
authors.affiliation: 2 Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Radim
authors.initials: R
authors.lastname: Mazanec
authors.affiliation: 3 John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
authors.forename: Stephan
authors.initials: S
authors.lastname: Züchner
authors.affiliation: 3 John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Gonzalez
authors.affiliation: 1 Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Pavel
authors.initials: P
authors.lastname: Seeman
mesh_terms: D000818:Animals; D001369:Axons / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D014157:Transcription Factors