H. R. Elliott, D. C. Samuels, J. A. Eden, C. L. Relton, and P. F. Chinnery, Pathogenic mitochondrial DNA mutations are common in the general population, Am J Hum Genet, vol.83, pp.254-60, 2008.

E. D. Robin and R. Wong, Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells, J Cell Physiol, vol.136, pp.507-520, 1988.

L. Craven, C. L. Alston, R. W. Taylor, and D. M. Turnbull, Recent advances in mitochondrial disease, Annu Rev Genomics Hum Genet, 2017.

R. P. Saneto, Genetics of Mitochondrial Disease, Adv Genet, vol.2017, pp.63-116, 2017.

D. S. Lieber, S. E. Calvo, K. Shanahan, N. G. Slate, S. Liu et al., Targeted exome sequencing of suspected mitochondrial disorders, Neurology, vol.80, pp.1762-70, 2013.

A. Legati, A. Reyes, A. Nasca, F. Invernizzi, E. Lamantea et al., New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies, Biochim Biophys Acta BBA -Bioenerg, vol.2016, pp.1326-1361, 1857.

G. Morel, S. Bannwarth, A. Chaussenot, A. Cano, K. Fragaki et al., A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers, Neuromuscul Disord, vol.26, pp.885-894, 2016.

C. T. Moraes, S. Dimauro, M. Zeviani, A. Lombes, S. Shanske et al., Mitochondrial DNA deletions in progressive external Ophthalmoplegia and Kearns-Sayre syndrome, N Engl J Med, vol.320, pp.1293-1302, 1989.

A. Ardissone, G. Piscosquito, A. Legati, T. Langella, E. Lamantea et al., A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders, Neurology, vol.84, pp.2193-2198, 2015.

Y. Liu, M. Laurá, J. Hersheson, A. Horga, Z. Jaunmuktane et al., Extended phenotypic spectrum of KIF5A mutations from spastic paraplegia to axonal neuropathy, Neurology, vol.83, pp.612-621, 2014.

J. Duis, S. Dean, C. Applegate, A. Harper, R. Xiao et al., KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction, Ann Neurol, vol.80, pp.633-640, 2016.

D. Ronchi, D. Fonzo, A. Lin, W. Bordoni, A. Liu et al., Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability, Am J Hum Genet, vol.92, pp.293-300, 2013.

M. J. Young, M. J. Longley, F. Li, R. Kasiviswanathan, L. Wong et al., Biochemical analysis of human POLG2 variants associated with mitochondrial disease, Hum Mol Genet, vol.20, pp.3052-66, 2011.

M. Lek, K. J. Karczewski, E. V. Minikel, K. E. Samocha, E. Banks et al., Analysis of protein-coding genetic variation in 60,706 humans, Nature, vol.536, pp.285-91, 2016.

M. C. Walter, B. Czermin, S. Muller-ziermann, S. Bulst, J. D. Stewart et al., Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2, J Neurol, vol.257, pp.1517-1540, 2010.

L. Van-maldergem, A. Besse, B. De-paepe, E. L. Blakely, V. Appadurai et al., POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism, Ann Clin Transl Neurol, vol.4, pp.4-14, 2017.
URL : https://hal.archives-ouvertes.fr/hal-01492629

J. Neubauer, M. R. Lecca, G. Russo, C. Bartsch, A. Medeiros-domingo et al., Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases, Eur J Hum Genet, vol.25, pp.404-413, 2017.

M. Synofzik, K. Smets, M. Mallaret, D. Bella, D. Gallenmüller et al., SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-Centre study, Brain, vol.139, pp.1378-93, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01871789

D. Meglio, C. Bonello-palot, N. Boulay, C. Milh, M. Ovaert et al., Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation, Brain and Development, vol.38, pp.498-506, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01469048

S. Züchner, P. De-jonghe, A. Jordanova, K. G. Claeys, V. Guergueltcheva et al., Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2, Ann Neurol, vol.59, pp.276-81, 2006.

S. Züchner, I. V. Mersiyanova, M. Muglia, N. Bissar-tadmouri, J. Rochelle et al., Mutations in the mitochondrial GTPase mitofusin 2 cause CharcotMarie-tooth neuropathy type 2A, Nat Genet, vol.36, pp.449-51, 2004.

P. I. Sergouniotis, R. Perveen, D. L. Thiselton, K. Giannopoulos, M. Sarros et al., Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy, Neurogenetics, vol.16, pp.69-75, 2015.

D. Ronchi, C. Garone, A. Bordoni, P. Gutierrez-rios, S. E. Calvo et al., Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions, Brain, vol.135, pp.3404-3419, 2012.

P. J. Wightman, R. Santer, A. Ribes, F. Dougherty, N. Mcgill et al., MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency, Hum Mutat, vol.22, pp.288-300, 2003.

S. Monnot, V. Serre, B. Chadefaux-vekemans, J. Aupetit, S. Romano et al., Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency, Hum Mutat, vol.30, pp.734-774, 2009.

V. Vasta, S. B. Ng, E. H. Turner, J. Shendure, and S. H. Hahn, Next generation sequence analysis for mitochondrial disorders, Genome Med, vol.1, p.100, 2009.

S. E. Calvo, A. G. Compton, S. G. Hershman, S. C. Lim, D. S. Lieber et al., Molecular diagnosis of infantile mitochondrial disease with targeted nextgeneration sequencing, Sci Transl Med, vol.4, pp.118-128, 2012.

V. Vasta, J. L. Merritt, . Ii, R. P. Saneto, and S. H. Hahn, Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum: mitochondrial disease and NGS technology, Pediatr Int, vol.54, pp.585-601, 2012.

J. T. Dare, V. Vasta, J. Penn, N. Tran, and S. H. Hahn, Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity, BMC Med Genet, vol.14, p.118, 2013.

A. Ohtake, K. Murayama, M. Mori, H. Harashima, T. Yamazaki et al., Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification, Biochim Biophys Acta BBA -Gen Subj, vol.2014, pp.1355-1364, 1840.

R. W. Taylor, A. Pyle, H. Griffin, E. L. Blakely, J. Duff et al., Use of wholeexome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies, JAMA, vol.312, p.68, 2014.

S. B. Wortmann, D. A. Koolen, J. A. Smeitink, L. Van-den-heuvel, and R. J. Rodenburg, Whole exome sequencing of suspected mitochondrial patients in clinical practice, J Inherit Metab Dis, vol.38, pp.437-480, 2015.

E. D. Apel, R. M. Lewis, R. M. Grady, and J. R. Sanes, Syne-1, a dystrophin-and Klarsichtrelated protein associated with synaptic nuclei at the neuromuscular junction, J Biol Chem, vol.275, pp.31986-95, 2000.

Q. Zhang, C. Bethmann, N. F. Worth, J. D. Davies, C. Wasner et al., Nesprin-1 and -2 are involved in the pathogenesis of Emery? Dreifuss muscular dystrophy and are critical for nuclear envelope integrity, Hum Mol Genet, vol.16, pp.2816-2849, 2007.

F. Gros-louis, N. Dupré, P. Dion, M. A. Fox, S. Laurent et al., Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia, Nat Genet, vol.39, pp.80-85, 2007.

J. A. Mayr, T. B. Haack, E. Graf, F. A. Zimmermann, T. Wieland et al., Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome, Am J Hum Genet, vol.90, pp.314-334, 2012.

V. Tiranti, ETHE1 mutations are specific to ethylmalonic encephalopathy, J Med Genet, vol.43, pp.340-346, 2005.

D. Ghezzi, P. Goffrini, G. Uziel, R. Horvath, T. Klopstock et al., SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy, Nat Genet, vol.41, pp.654-660, 2009.

A. Béhin, C. Jardel, K. G. Claeys, J. Fagart, M. Louha et al., Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum, Neurology, vol.78, pp.644-652, 2012.

Y. Ç. Kocaefe, S. Erdem, M. Özgüç, and E. Tan, Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients, Eur J Hum Genet, vol.11, pp.102-106, 2003.

M. Ferrã©, D. Bonneau, D. Milea, A. Chevrollier, C. Verny et al., Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations, Hum Mutat, vol.30, pp.692-705, 2009.

K. W. Chung, Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations, Brain, vol.129, pp.2103-2121, 2006.