A. Al-hussaini, E. Faqeih, A. El-hattab, M. Alfadhel, A. Asery et al., Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure, The Journal of Pediatrics, vol.164, issue.3, pp.553-559, 2014.
DOI : 10.1016/j.jpeds.2013.10.082

A. Alkhaja, D. Jans, M. Nikolov, M. Vukotic, O. Lytovchenko et al., MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization, Molecular Biology of the Cell, vol.23, issue.2, pp.247-257, 2012.
DOI : 10.1091/mbc.E11-09-0774

R. Anand, V. Strecker, J. Urbach, I. Wittig, and A. Reichert, Mic13 Is Essential for Formation of Crista Junctions in Mammalian Cells, PLOS ONE, vol.31, issue.3, 2016.
DOI : 10.1371/journal.pone.0160258.s003

M. Barbot, D. Jans, C. Schulz, N. Denkert, B. Kroppen et al., Mic10 Oligomerizes to Bend Mitochondrial Inner Membranes at Cristae Junctions, Cell Metabolism, vol.21, issue.5, pp.756-763, 2015.
DOI : 10.1016/j.cmet.2015.04.006

P. Bé-nit, S. Goncalves, P. Dassa, E. Briè-re, J. Martin et al., Three spectrophotometric assays for the measurement of the five respiratory chain complexes in minuscule biological samples, Clinica Chimica Acta, vol.374, issue.1-2, pp.81-86, 2006.
DOI : 10.1016/j.cca.2006.05.034

M. Bohnert, R. Zerbes, K. Davies, A. Mü-hleip, H. Rampelt et al., Central Role of Mic10 in the Mitochondrial Contact Site and Cristae Organizing System, Cell Metabolism, vol.21, issue.5, pp.747-755, 2015.
DOI : 10.1016/j.cmet.2015.04.007

P. Cingolani, V. Patel, M. Coon, T. Nguyen, S. Land et al., Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift, Frontiers in Genetics, vol.3, 2012.
DOI : 10.3389/fgene.2012.00035

P. Cingolani, A. Platts, L. Wang-le, M. Coon, T. Nguyen et al., A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff, Fly, vol.8, issue.2, pp.80-92, 2012.
DOI : 10.1101/gr.4086505

M. Depristo, E. Banks, R. Poplin, K. Garimella, J. Maguire et al., A framework for variation discovery and genotyping using next-generation DNA sequencing data, Nature Genetics, vol.8, issue.5, pp.491-498, 2011.
DOI : 10.1126/science.1177074

R. El-khoury, E. Dufour, M. Rak, N. Ramanantsoa, N. Grandchamp et al., Alternative Oxidase Expression in the Mouse Enables Bypassing Cytochrome c Oxidase Blockade and Limits Mitochondrial ROS Overproduction, PLoS Genetics, vol.3, issue.1, 2013.
DOI : 10.1371/journal.pgen.1003182.s003

P. Gaignard, E. Gonzales, O. Ackermann, P. Labrune, I. Correia et al., Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases, JIMD Reports, vol.11, pp.117-123, 2013.
DOI : 10.1007/8904_2013_230

A. Garcia-cazorla, F. Mochel, F. Lamari, and J. Saudubray, The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview, Journal of Inherited Metabolic Disease, vol.88, issue.Suppl 3, pp.19-40, 2015.
DOI : 10.1007/s10545-014-9776-6

URL : https://hal.archives-ouvertes.fr/hal-01103255

E. Genin, M. Plutino, S. Bannwarth, E. Villa, E. Cisneros-barroso et al., CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis, EMBO Molecular Medicine, vol.8, issue.1, pp.58-72, 2016.
DOI : 10.15252/emmm.201505496

V. Geoffroy, C. Pizot, C. Redin, A. Piton, N. Vasli et al., VaRank: a simple and powerful tool for ranking genetic variants, PeerJ, vol.11, 2015.
DOI : 10.7717/peerj.796/supp-3

L. Gomes, D. Benedetto, G. Scorrano, and L. , During autophagy mitochondria elongate, are spared from degradation and sustain cell viability, Nature Cell Biology, vol.17, issue.5, pp.589-598, 2011.
DOI : 10.1038/ncb2220

R. Haas, S. Parikh, M. Falk, R. Saneto, N. Wolf et al., The in-depth evaluation of suspected mitochondrial disease, Molecular Genetics and Metabolism, vol.94, issue.1, pp.16-37, 2008.
DOI : 10.1016/j.ymgme.2007.11.018

M. Harner, C. Kö-rner, D. Walther, D. Mokranjac, J. Kaesmacher et al., The mitochondrial contact site complex, a determinant of mitochondrial architecture, The EMBO Journal, vol.581, issue.21, pp.4356-4370, 2011.
DOI : 10.1038/emboj.2011.379

G. John, Y. Shang, L. Li, C. Renken, C. Mannella et al., The Mitochondrial Inner Membrane Protein Mitofilin Controls Cristae Morphology, Molecular Biology of the Cell, vol.16, issue.3, pp.1543-1554, 2005.
DOI : 10.1091/mbc.E04-08-0697

M. Kim, C. Jardel, C. Barthelemy, J. V. Bastard, J. Fillaut-chapin et al., Mitochondrial DNA Content, an Inaccurate Biomarker of Mitochondrial Alteration in Human Immunodeficiency Virus-Related Lipodystrophy, Antimicrobial Agents and Chemotherapy, vol.52, issue.5, pp.1670-167601449, 2008.
DOI : 10.1128/AAC.01449-07

S. Koob, M. Barrera, R. Anand, and A. Reichert, The non-glycosylated isoform of MIC26 is a constituent of the mammalian MICOS complex and promotes formation of crista junctions, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, vol.1853, issue.7, pp.1551-1563, 2015.
DOI : 10.1016/j.bbamcr.2015.03.004

J. Lee, M. Kapur, M. Li, M. Choi, S. Choi et al., MFN1 deacetylation activates adaptive mitochondrial fusion and protects metabolically challenged mitochondria, Journal of Cell Science, vol.127, issue.22, pp.4954-4963, 2014.
DOI : 10.1242/jcs.157321

H. Li and R. Durbin, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, vol.25, issue.14, 2009.
DOI : 10.1093/bioinformatics/btp324

H. Li, Y. Ruan, K. Zhang, F. Jian, C. Hu et al., Mic60/Mitofilin determines MICOS assembly essential for mitochondrial dynamics and mtDNA nucleoid organization, Cell Death and Differentiation, vol.109, issue.3, pp.380-392, 2016.
DOI : 10.1016/j.cell.2014.05.047

Y. Lu and S. Claypool, Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes, Frontiers in Genetics, vol.173, issue.e63683, 2015.
DOI : 10.1002/yea.320110602

E. Malfatti, V. Lehtokari, J. Bö-hm, D. Winter, J. Schä-ffer et al., Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype, Acta Neuropathologica Communications, vol.18, issue.4, pp.44-54, 2014.
DOI : 10.1016/j.spen.2011.10.006

URL : https://hal.archives-ouvertes.fr/inserm-00987739

J. Mayr, Lipid metabolism in mitochondrial membranes, Journal of Inherited Metabolic Disease, vol.173, issue.6, pp.137-144, 2015.
DOI : 10.1007/s10545-014-9748-x

F. Medja, S. Allouche, P. Frachon, C. Jardel, M. Malgat et al., Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis, Mitochondrion, vol.9, issue.5, pp.331-339
DOI : 10.1016/j.mito.2009.05.001

URL : https://hal.archives-ouvertes.fr/inserm-00516056

R. Naviaux and K. Nguyen, POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion, Annals of Neurology, vol.22, issue.5, pp.706-712, 2004.
DOI : 10.1002/ana.20079

C. Ott, K. Ross, S. Straub, B. Thiede, M. Gö-tz et al., Sam50 Functions in Mitochondrial Intermembrane Space Bridging and Biogenesis of Respiratory Complexes, Molecular and Cellular Biology, vol.32, issue.6, pp.1173-1188, 1128.
DOI : 10.1128/MCB.06388-11

N. Pfanner, M. Van-der-laan, P. Amati, R. Capaldi, A. Caudy et al., Uniform nomenclature for the mitochondrial contact site and cristae organizing system, The Journal of Cell Biology, vol.109, issue.7, pp.1083-1086, 2014.
DOI : 10.1016/j.bbamcr.2008.06.013

B. Robinson, D. Glerum, W. Chow, R. Petrova-benedict, R. Lightowlers et al., The Use of Skin Fibroblast Cultures in the Detection of Respiratory Chain Defects in Patients with Lacticacidemia, Pediatric Research, vol.28, issue.5, pp.549-555, 1990.
DOI : 10.1203/00006450-199011000-00027

B. Robinson, R. Petrova-benedict, J. Buncic, and D. Wallace, Nonviability of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblasts, Biochemical Medicine and Metabolic Biology, vol.48, issue.2, pp.122-126, 1992.
DOI : 10.1016/0885-4505(92)90056-5

R. Rossignol, R. Gilkerson, R. Aggeler, K. Yamagata, S. Remington et al., Energy Substrate Modulates Mitochondrial Structure and Oxidative Capacity in Cancer Cells, Cancer Research, vol.64, issue.3, pp.985-993, 2004.
DOI : 10.1158/0008-5472.CAN-03-1101

P. Rustin, D. Chretien, T. Bourgeron, B. Gé-rard, A. Rö-tig et al., Biochemical and molecular investigations in respiratory chain deficiencies, Clinica Chimica Acta, vol.228, issue.1, pp.35-51, 1994.
DOI : 10.1016/0009-8981(94)90055-8

M. Schiff, P. Bé-nit, R. El-khoury, D. Schlemmer, J. Benoist et al., Mouse Studies to Shape Clinical Trials for Mitochondrial Diseases: High Fat Diet in Harlequin Mice, PLoS ONE, vol.432, issue.12, 2011.
DOI : 10.1371/journal.pone.0028823.t003

I. Stanley, S. Ribeiro, A. Gimé-nez-cassina, E. Norberg, and N. Danial, Changing appetites: the adaptive advantages of fuel choice, Trends in Cell Biology, vol.24, issue.2, pp.118-127, 2014.
DOI : 10.1016/j.tcb.2013.07.010

D. Thorburn and J. Smeitink, Diagnosis of mitochondrial disorders: clinical and biochemical approach, Journal of Inherited Metabolic Disease, vol.24, issue.2, pp.312-316, 2001.
DOI : 10.1023/A:1010347808082

D. Thorburn, Practical problems in detecting abnormal mitochondrial function and genomes, Human Reproduction, vol.15, issue.suppl 2, pp.57-67, 2000.
DOI : 10.1093/humrep/15.suppl_2.57

S. Vafai, V. Mootha, J. Smeitink, and R. Rodenburg, Mitochondrial disorders as windows into an ancient organelle doi: 10 Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects, Nature Mitochondrion, vol.491, issue.4, pp.374-383395, 1038.

M. Van-der-laan, S. Horvath, and N. Pfanner, Mitochondrial contact site and cristae organizing system, Current Opinion in Cell Biology, vol.41, pp.33-42, 2016.
DOI : 10.1016/j.ceb.2016.03.013

T. Weber, S. Koob, H. Heide, I. Wittig, B. Head et al., APOOL Is a Cardiolipin-Binding Constituent of the Mitofilin/MINOS Protein Complex Determining Cristae Morphology in Mammalian Mitochondria, PLoS ONE, vol.278, issue.5, 2013.
DOI : 10.1371/journal.pone.0063683.g008

S. Wortmann, M. Duran, Y. Anikster, P. Barth, W. Sperl et al., Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature, Journal of Inherited Metabolic Disease, vol.44, issue.1, pp.923-928, 2013.
DOI : 10.1007/s10545-012-9580-0

S. Wortmann, M. Espeel, L. Almeida, A. Reimer, D. Bosboom et al., Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids, Journal of Inherited Metabolic Disease, vol.200, issue.1, pp.99-110, 2015.
DOI : 10.1007/s10545-014-9759-7

T. Yamazaki, S. Chen, Y. Yu, B. Yan, T. Haertlein et al., FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA, Cell Reports, vol.2, issue.4, pp.799-806
DOI : 10.1016/j.celrep.2012.08.025

R. Zerbes, P. Hö-ß, N. Pfanner, M. Van-der-laan, and M. Bohnert, Distinct Roles of Mic12 and Mic27 in the Mitochondrial Contact Site and Cristae Organizing System, Journal of Molecular Biology, vol.428, issue.8, pp.1485-1492, 2016.
DOI : 10.1016/j.jmb.2016.02.031

R. Zerbes, I. Van-der-klei, M. Veenhuis, N. Pfanner, M. Van-der-laan et al., Mitofilin complexes: conserved organizers of mitochondrial membrane architecture, Biological Chemistry, vol.393, issue.11, pp.1247-1261, 2012.
DOI : 10.1515/hsz-2012-0239