Identification of Variants in the 4q35 GeneFAT1in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype-Reference-Cited by-同舟云学术

Identification of Variants in the 4q35 GeneFAT1in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

Published:2015-03-19 Issue:4 Volume:36 Page:443-453
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Puppo Francesca¹²,Dionnet Eugenie¹²,Gaillard Marie-Cécile¹²,Gaildrat Pascaline³,Castro Christel¹²,Vovan Catherine⁴,Bertaux Karine⁴,Bernard Rafaelle⁴,Attarian Shahram¹²⁵,Goto Kanako⁶,Nishino Ichizo⁶,Hayashi Yukiko⁷,Magdinier Frédérique¹²,Krahn Martin¹²⁴,Helmbacher Françoise⁸,Bartoli Marc¹²⁴,Lévy Nicolas¹²⁴

Affiliation:

1. Aix Marseille Université; GMGF; Marseille France

2. Inserm; UMR; S 910 Marseille France

3. Institute for Research and Innovation in Biomedecine (IRIB); Inserm, UMR 1079; University of Rouen; Rouen France

4. Département de Génétique Médicale et de Biologie Cellulaire; AP-HM; Hôpital d'Enfants de la Timone; Marseille France

5. Department of Neurology and Neuromuscular Diseases; CHU La Timone; Marseille France

6. NCNP; National Institute of Neuroscience; Tokyo Japan

7. Department of Neurophysiology; Tokyo Medical University; Tokyo Japan

8. Aix Marseille Université; CNRS; IBDM; UMR 7288 Marseille France

Funder

Association Française contre les Myopathies (AFM)-Téléthon (strategical pole MNH Decrypt)

Fondation Maladies Rares