Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data-Reference-Cited by-同舟云学术

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Published:2017-03-01 Issue:2 Volume:92 Page:188-198
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Nambot S.¹²^ORCID,Gavrilov D.³⁴,Thevenon J.¹⁵⁶^ORCID,Bruel A.L.²⁶,Bainbridge M.⁷,Rio M.⁸,Goizet C.⁹,Rötig A.¹⁰,Jaeken J.¹¹,Niu N.¹²,Xia F.¹²,Vital A.¹³,Houcinat N.¹,Mochel F.¹⁴,Kuentz P.²,Lehalle D.¹,Duffourd Y.⁵⁶,Rivière J.B.²⁵⁶,Thauvin-Robinet C.¹⁵⁶,Beaudet A.L.¹²,Faivre L.¹⁵⁶

Affiliation:

1. Centre de Génétique et Centre de référence «Anomalies du Développement et Syndromes Malformatifs», Hôpital d'Enfants; Centre Hospitalier Universitaire de Dijon; Dijon France

2. Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie; Centre Hospitalier Universitaire de Dijon; Dijon France

3. Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology; Mayo Clinic College of Medicine; Rochester Minnesota

4. Department of Genetics and Genomics; Mayo Clinic College of Medicine; Rochester Minnesota

5. Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD); Centre Hospitalier Universitaire de Dijon et Université de Bourgogne-Franche Comté; Dijon France

6. Génétique des Anomalies du Développement; Université de Bourgogne; Dijon France

7. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

8. Service de Génétique Médicale; Hôpital Necker Enfants Malades; Paris France

9. Service de Génétique Médicale; Centre Hospitalier Universitaire de Bordeaux-GH Pellegrin; Bordeaux France

10. Laboratoire de Génétique Moléculaire, Institut de Recherche Necker Enfants Malades; Hôpital Necker Enfants Malades; Paris France

11. Center for Metabolic Diseases; University Hospital Gasthuisberg; Leuven Belgium

12. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

13. Service de Pathologie, Pôle Biologie et Pathologie; Centre Hospitalier Universitaire de Bordeaux-GH Pellegrin; Bordeaux France

14. Service de Génétique médicale; Centre Hospitalier Universitaire La Pitié Salpêtrière-Charles Foix; Paris France

Funder

Regional Council of Burgundy and Dijon University Hospital

AOI

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12985/fullpdf

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5. The mitochondrial disulfide relay system protein GFER Is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency;Di Fonzo;Am J Hum Genet,2009

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