title: Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype.
authors.affiliation: Pediatric Clinical Trials Department, I-Motion, Paris.
authors.forename: C
authors.initials: C
authors.lastname: Anghelescu
authors.affiliation: Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie Hôpital Bicêtre, Paris-Sud, Le Kremlin-Bicêtre.|Plateforme d'Expertise Maladies Rares Paris Sud, Le Kremlin Bicêtre.
authors.forename: B
authors.initials: B
authors.lastname: Francou
authors.affiliation: Pediatric Clinical Trials Department, I-Motion, Paris.
authors.forename: R
authors.initials: R
authors.lastname: Cardas
authors.affiliation: Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie Hôpital Bicêtre, Paris-Sud, Le Kremlin-Bicêtre.|Plateforme d'Expertise Maladies Rares Paris Sud, Le Kremlin Bicêtre.
authors.forename: A
authors.initials: A
authors.lastname: Guiochon-Mantel
authors.affiliation: Service de Neuropédiatrie et Inserm 1169, Le Kremlin Bicêtre, France.
authors.forename: P
authors.initials: P
authors.lastname: Aubourg
authors.affiliation: Pediatric Clinical Trials Department, I-Motion, Paris.
authors.forename: L
authors.initials: L
authors.lastname: Servais
authors.affiliation: Pediatric Clinical Trials Department, I-Motion, Paris.
authors.forename: T
authors.initials: T
authors.lastname: Gidaro
keywords: 
  
  GDAP1
  
  ; 
  
  MFN2
  
  ; Charcot-Marie-Tooth; exome