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

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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

12. Service des Maladies Héréditaires du Métabolisme; Centre de Biologie et de Pathologie Est; CHU Lyon; Bron France

Funder

French Ministry of Health

Union Nationale des Aveugles et Déficients Visuels

Ouvrir Les Yeux

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37188/fullpdf

Reference25 articles.

1. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast;Baruffini;Hum Mutat,2013

2. Clinical features, investigation, and management of patients with defects of mitochondrial DNA;Chinnery;J Neurol Neurosurg Psychiatry,1997

3. Epigenetics, epidemiology and mitochondrial DNA diseases;Chinnery;Int J Epidemiol,2012

4. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis;Ghezzi;Am J Hum Genet,2012

5. MtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences;Ingman;Nucleic Acids Res,2006

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4. Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models;International Journal of Molecular Sciences;2023-01-22

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