Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant-Reference-Cited by-同舟云学术

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant

Published:2015-06-10 Issue:10 Volume:167 Page:2366-2374
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Charif Majida¹²³,Titah Salah Mohamed Cherif⁴,Roubertie Agathe⁵,Desquiret-Dumas Valérie⁶⁷,Gueguen Naig⁶⁷,Meunier Isabelle¹²³⁴,Leid Jean⁸,Massal Frédéric⁸,Zanlonghi Xavier⁹,Mercier Jacques¹⁰¹¹,Raynaud de Mauverger Eric¹⁰¹¹,Procaccio Vincent⁶⁷,de Camaret Bénédicte Mousson¹²,Lenaers Guy¹²³,Hamel Christian P.¹²³⁴

Affiliation:

1. INSERM U1051; Institute for Neurosciences of Montpellier; Montpellier France

2. Université Montpellier 1; Montpellier France

3. Université Montpellier 2; Montpellier France

4. CHRU Montpellier; Centre de Référence Maladies Sensorielles Génétiques; Montpellier France

5. CHRU Montpellier; Service de Neuropédiatrie; Montpellier France

6. Département de Biochimie et Génétique; CHRU Angers; Angers France

7. UMR CNRS 6214-INSERM U1083; Université Angers; Angers France

8. Ophthalmology; Eye Center; Pau France

9. Clinique Sourdille; Visual Explorations; Nantes France

10. CHRU Montpellier; CERAMM; Montpellier France

11. INSERM U1046; Médecine et Physiologie Expérimentale du Cœur et des Muscles; Montpellier France