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Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.
Lassuthová, Petra; Safka Brozková, Dana; Krutová, Marcela; Mazanec, Radim; Züchner, Stephan; Gonzalez, Michael A; Seeman, Pavel.
Afiliación
  • Lassuthová P; 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.
  • Safka Brozková D; 1 Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Krutová M; 1 Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Mazanec R; 2 Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Züchner S; 3 John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
  • Gonzalez MA; 3 John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
  • Seeman P; 1 Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Brain ; 139(Pt 4): e26, 2016 Apr.
Article en En | MEDLINE | ID: mdl-26912637
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Axones / Factores de Transcripción / Enfermedad de Charcot-Marie-Tooth / Mutación Límite: Animals / Female / Humans / Male Idioma: En Revista: Brain Año: 2016 Tipo del documento: Article País de afiliación: República Checa
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Axones / Factores de Transcripción / Enfermedad de Charcot-Marie-Tooth / Mutación Límite: Animals / Female / Humans / Male Idioma: En Revista: Brain Año: 2016 Tipo del documento: Article País de afiliación: República Checa