Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype
Eur J Neurol
.
2017 Mar;24(3):e15-e16.
doi: 10.1111/ene.13250.
Authors
C Anghelescu
1
,
B Francou
2
3
,
R Cardas
1
,
A Guiochon-Mantel
2
3
,
P Aubourg
4
,
L Servais
1
,
T Gidaro
1
Affiliations
1
Pediatric Clinical Trials Department, I-Motion, Paris.
2
Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie Hôpital Bicêtre, Paris-Sud, Le Kremlin-Bicêtre.
3
Plateforme d'Expertise Maladies Rares Paris Sud, Le Kremlin Bicêtre.
4
Service de Neuropédiatrie et Inserm 1169, Le Kremlin Bicêtre, France.
PMID:
28211244
DOI:
10.1111/ene.13250
No abstract available
Keywords:
GDAP1; MFN2; Charcot-Marie-Tooth; exome.
Publication types
Letter