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Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot‐Marie‐Tooth disease type 2 phenotype |
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| Authors: | C Anghelescu B Francou R Cardas A Guiochon‐Mantel P Aubourg L Servais T Gidaro |
| Institution: | 1. Pediatric Clinical Trials Department, I‐Motion, Paris;2. Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie H?pital 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 |
| Abstract: | |
| Keywords: | Charcot‐Marie‐Tooth exome GDAP1 MFN2 |