Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations-Reference-Cited by-同舟云学术

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

Published:2019-11-11 Issue:2 Volume:41 Page:397-402
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Barcia Giulia¹²,Rio Marlène¹²,Assouline Zahra¹²,Zangarelli Coralie¹,Gueguen Naig³,Dumas Valerie D.³,Marcorelles Pascale⁴,Schiff Manuel¹⁵^ORCID,Slama Abdelhamid⁶,Barth Magalie³,Hully Marie⁷,Lonlay Pascale⁸,Munnich Arnold¹²,Desguerre Isabelle⁷,Bonnefont Jean‐Paul¹²,Steffann Julie¹²,Procaccio Vincent³,Boddaert Nathalie⁹,Rötig Agnès¹,Metodiev Metodi D.¹^ORCID,Ruzzenente Benedetta¹^ORCID

Affiliation:

1. Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine InstituteParis Descartes‐Sorbonne Paris Cité UniversityParis France

2. Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades HospitalParis Descartes UniversityParis France

3. UMR CNRS 6015‐INSERM U1083, MitoVasc InstituteAngers UniversityAngers France

4. Department of PathologyCHRU BrestBrest France

5. Reference Center for Inherited Metabolic DiseasesRobert Debré HospitalParis France

6. Biochemistry laboratoryBicêtre HospitalLe Kremlin Bicêtre France

7. Department of Pediatric Neurology, Necker Enfants Malades HospitalParis Descartes UniversityParis France

8. Reference Center for Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine InstituteParis Descartes University, INEM‐1151, G2M, MetabERNParis France

9. Department of Pediatric Radiology, INSERM UMR 1163, INSERM U1000, Necker Enfants Malades Hospital, Imagine InstituteUniversité Paris Descartes‐Sorbonne Paris CitéParis France

Funder

AFM-Téléthon

Agence Nationale de la Recherche

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23937

Reference16 articles.

1. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

2. Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1

3. Long‐term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations;Brito S.;Frontiers in Genetics,2015

4. Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

5. Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency

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