B. Kjer, H. Eiberg, P. Kjer, and T. Rosenberg, Dominant optic atrophy mapped to chromosome 3q region, Acta Ophthalmologica Scandinavica, vol.359, issue.Suppl 54, pp.3-7, 1996.
DOI : 10.1111/j.1600-0420.1996.tb00672.x

A. Olichon, E. Guillou, C. Delettre, T. Landes, L. Arnaune-pelloquin et al., Mitochondrial dynamics and disease, OPA1, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, vol.1763, issue.5-6, pp.17635-6500, 2006.
DOI : 10.1016/j.bbamcr.2006.04.003

C. Delettre, G. Lenaers, J. Griffoin, N. Gigarel, C. Lorenzo et al., Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy, Nature Genetics, vol.303, issue.2, pp.207-210, 2000.
DOI : 10.1083/JCB.143.2.351

M. Ferre, P. Amati-bonneau, Y. Tourmen, Y. Malthiery, and P. Reynier, an online database for OPA1 mutations, Hum Mutat, vol.25, issue.5, pp.1423-428, 2005.

V. Carelli, L. Morgia, C. Iommarini, L. Carroccia, R. Mattiazzi et al., Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?, Bioscience Reports, vol.130, issue.1-3, pp.1-3173, 2007.
DOI : 10.1007/s10540-007-9045-0

C. Richard, E. Pennarun, T. Kivisild, K. Tambets, H. Tolk et al., An mtDNA perspective of French genetic variation, Annals of Human Biology, vol.132, issue.1, pp.68-79, 2007.
DOI : 10.1086/323485

D. Pierron, C. Rocher, P. Amati-bonneau, P. Reynier, M. Martin-negrier et al., New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation, BMC Medical Genetics, vol.5, issue.4, p.41, 2008.
DOI : 10.1093/hmg/5.4.473

URL : https://hal.archives-ouvertes.fr/hal-00292521

A. Achilli, C. Rengo, V. Battaglia, M. Pala, A. Olivieri et al., Saami and Berbers???An Unexpected Mitochondrial DNA Link, The American Journal of Human Genetics, vol.76, issue.5, pp.76883-886, 2005.
DOI : 10.1086/430073

A. Achilli, C. Rengo, C. Magri, V. Battaglia, A. Olivieri et al., The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool, The American Journal of Human Genetics, vol.75, issue.5, pp.75910-918, 2004.
DOI : 10.1086/425590

T. Kivisild, P. Shen, D. Wall, B. Do, R. Sung et al., The Role of Selection in the Evolution of Human Mitochondrial Genomes, Genetics, vol.172, issue.1, pp.373-387, 2006.
DOI : 10.1534/genetics.105.043901

M. Palanichamy, C. Sun, S. Agrawal, H. Bandelt, Q. Kong et al., Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia, The American Journal of Human Genetics, vol.75, issue.6, pp.75966-978, 2004.
DOI : 10.1086/425871

V. Macaulay, M. Richards, E. Hickey, E. Vega, F. Cruciani et al., The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs, The American Journal of Human Genetics, vol.64, issue.1, pp.232-249, 1999.
DOI : 10.1086/302204

N. Mogentale-profizi, L. Chollet, A. Stevanovitch, V. Dubut, C. Poggi et al., Mitochondrial DNA sequence diversity in two groups of Italian Veneto speakers from Veneto, Annals of Human Genetics, vol.65, issue.2, pp.65153-166, 2001.
DOI : 10.1046/j.1469-1809.2001.6520153.x

O. Miettinen and M. Nurminen, Comparative analysis of two rates, Statistics in Medicine, vol.21, issue.2, pp.213-226, 1985.
DOI : 10.1002/sim.4780040211

A. Torroni, A. Achilli, V. Macaulay, M. Richards, and H. Bandelt, Harvesting the fruit of the human mtDNA tree, Trends in Genetics, vol.22, issue.6, pp.339-345, 2006.
DOI : 10.1016/j.tig.2006.04.001

V. Carelli, A. Achilli, M. Valentino, C. Rengo, O. Semino et al., Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees, The American Journal of Human Genetics, vol.78, issue.4, pp.564-574, 2006.
DOI : 10.1086/501236

E. Ruiz-pesini, D. Mishmar, M. Brandon, V. Procaccio, and D. Wallace, Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA, Science, vol.303, issue.5655, pp.223-226, 2004.
DOI : 10.1126/science.1088434

D. Wallace, The mitochondrial genome in human adaptive radiation and disease: On the road to therapeutics and performance enhancement, Gene, vol.354, pp.169-180, 2005.
DOI : 10.1016/j.gene.2005.05.001

G. Hudson, V. Carelli, L. Spruijt, M. Gerards, C. Mowbray et al., Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA???Haplogroup Background, The American Journal of Human Genetics, vol.81, issue.2, pp.228-233, 2007.
DOI : 10.1086/519394

H. Elliott, D. Samuels, J. Eden, C. Relton, and P. Chinnery, Pathogenic Mitochondrial DNA Mutations Are Common in the General Population, The American Journal of Human Genetics, vol.83, issue.2, pp.254-260, 2008.
DOI : 10.1016/j.ajhg.2008.07.004

K. Huoponen, J. Vilkki, P. Aula, E. Nikoskelainen, and M. Savontaus, A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy, Am J Hum Genet, vol.48, issue.6, pp.1147-1153, 1991.

A. Torroni, M. Petrozzi, D. Urbano, L. Sellitto, D. Zeviani et al., Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484, Am J Hum Genet, issue.5, pp.601107-1121, 1997.

T. Lamminen, K. Huoponen, P. Sistonen, V. Juvonen, P. Lahermo et al., mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy, Eur J Hum Genet, vol.5, issue.5, pp.271-279, 1997.

S. Hofmann, M. Jaksch, R. Bezold, S. Mertens, S. Aholt et al., Population Genetics and Disease Susceptibility: Characterization of Central European Haplogroups By mtDNA Gene Mutations, Correlation with D Loop Variants and Association With Disease, Human Molecular Genetics, vol.6, issue.11, pp.1835-1846, 1997.
DOI : 10.1093/hmg/6.11.1835

M. Brown, F. Sun, and D. Wallace, Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage, Am J Hum Genet, vol.60, issue.2, pp.381-387, 1997.

M. Yen, A. Wang, and Y. Wei, Leber's hereditary optic neuropathy: A multifactorial disease, Progress in Retinal and Eye Research, vol.25, issue.4, pp.381-396, 2006.
DOI : 10.1016/j.preteyeres.2006.05.002

R. Lodi, C. Tonon, M. Valentino, S. Iotti, V. Clementi et al., Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy, Ann Neurol, issue.5, pp.56719-723, 2004.

P. Amati-bonneau, A. Guichet, A. Olichon, A. Chevrollier, F. Viala et al., OPA1 R445H mutation in optic atrophy associated with sensorineural deafness, Annals of Neurology, vol.36, issue.6, pp.58958-963, 2005.
DOI : 10.1002/ana.20681