D. B. Olsen, P. Gideon, T. D. Jeppesen, and J. Vissing, Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI, J. Neurol, vol.253, pp.1437-1441, 2006.

S. Pandya, W. M. King, R. Tawil, and . Dystrophy, Phys. Ther, vol.88, pp.105-113, 2008.

R. Tawil and S. M. Van-der-maarel, Facioscapulohumeral muscular dystrophy, Muscle Nerve, vol.34, pp.1-15, 2006.
URL : https://hal.archives-ouvertes.fr/hal-00770764

M. Wohlgemuth, E. L. Van-der-kooi, R. G. Van-kesteren, S. M. Van-der-maarel, and G. W. Padberg, Ventilatory support in facioscapulohumeral muscular dystrophy, Neurology, vol.63, pp.176-178, 2004.

P. Laforet, C. De-toma, B. Eymard, H. M. Becane, M. Jeanpierre et al., Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy, Neurology, vol.51, pp.1454-1456, 1998.

J. C. Van-deutekom, C. Wijmenga, E. A. Van-tienhoven, A. M. Gruter, J. E. Hewitt et al., FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit, Hum. Mol. Genet, vol.2, pp.2037-2042, 1993.

J. H. Lee, K. Goto, C. Matsuda, and K. Arahata, Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35, Muscle Nerve, vol.2, pp.6-13, 1995.

J. E. Hewitt, R. Lyle, L. N. Clark, E. M. Valleley, T. J. Wright et al., Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy, Hum. Mol. Genet, vol.3, pp.1287-1295, 1994.

J. Gabriels, M. C. Beckers, H. Ding, A. De-vriese, S. Plaisance et al., Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element, Gene, vol.236, pp.25-32, 1999.

P. Arashiro, I. Eisenberg, A. T. Kho, A. M. Cerqueira, M. Canovas et al., Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers, Proc. Natl. Acad. Sci. USA, vol.106, pp.6220-6225, 2009.

D. Gabellini, G. D'antona, M. Moggio, A. Prelle, C. Zecca et al., Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1, Nature, vol.439, pp.973-977, 2006.

G. Jiang, F. Yang, P. G. Van-overveld, V. Vedanarayanan, S. Van-der-maarel et al., Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q, Hum. Mol. Genet, vol.12, pp.2909-2921, 2003.

R. J. Osborne, S. Welle, S. L. Venance, C. A. Thornton, and R. Tawil, Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy, Neurology, vol.68, pp.569-577, 2007.

S. T. Winokur, K. Barrett, J. H. Martin, J. R. Forrester, M. Simon et al., Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress, Neuromuscul. Disord, vol.13, pp.322-333, 2003.

S. T. Winokur, Y. W. Chen, P. S. Masny, J. H. Martin, J. T. Ehmsen et al., Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation, Hum. Mol. Genet, vol.12, pp.2895-2907, 2003.

R. Tawil, Facioscapulohumeral muscular dystrophy, Neurotherapeutics, vol.5, pp.601-606, 2008.
URL : https://hal.archives-ouvertes.fr/hal-00770764

W. Zeng, J. C. De-greef, Y. Y. Chen, R. Chien, X. Kong et al., Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD), 2009.

P. W. Lunt, P. E. Jardine, M. Koch, J. Maynard, M. Osborn et al., Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy, Muscle Nerve, vol.2, pp.103-109, 1995.

C. Wijmenga, L. Deaven, and R. R. Frants, Dinucleotide repeat polymorphism adjacent to the ANT1 gene on 4q35, Nucleic Acids Res, vol.20, p.1161, 1992.

K. Li, C. K. Warner, J. A. Hodge, S. Minoshima, J. Kudoh et al., A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed, J. Biol. Chem, vol.264, pp.13998-14004, 1989.

J. C. Van-deutekom, R. J. Lemmers, P. K. Grewal, M. Van-geel, S. Romberg et al., Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35, Hum. Mol. Genet, vol.5, pp.581-590, 1996.

T. Rijkers, G. Deidda, S. Van-koningsbruggen, M. Van-geel, R. J. Lemmers et al., FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients, J. Med. Genet, vol.41, pp.826-836, 2004.

R. J. Lemmers, . Van-der, P. J. Vliet, R. Klooster, S. Sacconi et al., A unifying genetic model for facioscapulohumeral muscular dystrophy, Science, vol.329, pp.1650-1653, 2010.

D. Bosnakovski, Z. Xu, E. J. Gang, C. L. Galindo, M. Liu et al., An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies, EMBO J, vol.27, pp.2766-2779, 2008.

V. Kowaljow, A. Marcowycz, E. Ansseau, C. B. Conde, S. Sauvage et al., The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein, Neuromuscul. Disord, vol.17, pp.611-623, 2007.

M. Dixit, E. Ansseau, A. Tassin, S. Winokur, R. Shi et al., DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1, Proc. Natl. Acad. Sci. USA, vol.104, pp.18157-18162, 2007.

C. Vanderplanck, E. Ansseau, S. Charron, N. Stricwant, A. Tassin et al., Belayew, A. The FSHD atrophic myotube phenotype is caused by DUX4 expression, PLoS One, vol.6, 2011.

L. M. Wallace, S. E. Garwick, W. Mei, A. Belayew, F. Coppee et al., DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo, Ann. Neurol, 2010.

V. Macaione, M. Aguennouz, C. Rodolico, A. Mazzeo, A. Patti et al., RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy, Acta Neurol. Scand, vol.115, pp.115-121, 2007.

D. Laoudj-chenivesse, G. Carnac, C. Bisbal, G. Hugon, S. Bouillot et al., Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle, J. Mol. Med, vol.83, pp.216-224, 2005.

B. Celegato, D. Capitanio, M. Pescatori, C. Romualdi, B. Pacchioni et al., Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes, Proteomics, vol.6, pp.5303-5321, 2006.

M. Barro, G. Carnac, S. Flavier, J. Mercier, Y. Vassetzky et al., Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects, J. Cell. Mol. Med, vol.14, pp.275-289, 2010.
URL : https://hal.archives-ouvertes.fr/inserm-00284424

S. Cheli, S. Francois, B. Bodega, F. Ferrari, E. Tenedini et al., Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns, PLoS One, vol.6, 2011.

P. J. Vignos, G. E. Spencer, and K. C. Archibald, Management of progressive muscular dystrophy in childhood, JAMA, vol.184, pp.89-96, 1963.

L. E. Voorrips, A. C. Ravelli, P. C. Dongelmans, P. Deurenberg, and W. A. Van-staveren, A physical activity questionnaire for the elderly, Med. Sci. Sports Exerc, vol.23, pp.974-979, 1991.

L. F. Black and R. E. Hyatt, Maximal respiratory pressures: normal values and relationship to age and sex, Am. Rev. Respir. Dis, vol.99, pp.696-702, 1969.

C. Koechlin, A. Couillard, D. Simar, J. P. Cristol, H. Bellet et al., Does oxidative stress alter quadriceps endurance in chronic obstructive pulmonary disease?, Am. J. Respir. Crit. Care Med, vol.169, pp.1022-1027, 2004.

A. Couillard, C. Koechlin, J. P. Cristol, A. Varray, and C. Prefaut, Evidence of local exercise-induced systemic oxidative stress in chronic obstructive pulmonary disease patients, Eur. Respir. J, vol.20, pp.1123-1129, 2002.
URL : https://hal.archives-ouvertes.fr/hal-01622943

I. Serres, V. Gautier, A. Varray, and C. Prefaut, Impaired skeletal muscle endurance related to physical inactivity and altered lung function in COPD patients, Chest, vol.113, pp.900-905, 1998.
URL : https://hal.archives-ouvertes.fr/hal-01625242

D. Delample, F. Durand, A. Severac, M. Belghith, E. Mas et al., Implication of xanthine oxidase in muscle oxidative stress in COPD patients, Free Radic. Res, vol.42, pp.807-814, 2008.

D. Brooks, J. Parsons, J. P. Hunter, M. Devlin, and J. Walker, The 2-minute walk test as a measure of functional improvement in persons with lower limb amputation, Arch. Phys. Med. Rehabil, vol.82, pp.1478-1483, 2001.

A. S. Leung, K. K. Chan, K. Sykes, and K. S. Chan, Reliability, validity, and responsiveness of a 2-min walk test to assess exercise capacity of COPD patients, Chest, vol.130, pp.119-125, 2006.

C. Thomas, S. Perrey, K. Lambert, G. Hugon, D. Mornet et al., Monocarboxylate transporters, blood lactate removal after supramaximal exercise, and fatigue indexes in humans, J. Appl. Physiol, vol.98, pp.804-809, 2005.
URL : https://hal.archives-ouvertes.fr/inserm-00148282

B. Roels, C. Thomas, D. J. Bentley, J. Mercier, M. Hayot et al., Effects of intermittent hypoxic training on amino and fatty acid oxidative combustion in human permeabilized muscle fibers, J. Appl. Physiol, vol.102, pp.79-86, 2007.
URL : https://hal.archives-ouvertes.fr/hal-01587344

J. Haleng, J. Pincemail, J. O. Defraigne, C. Charlier, and J. P. Chapelle, Rev. Med. Liege, vol.62, pp.628-638, 2007.

J. Pincemail, C. Le-goff, C. Charlier, P. Gillion, J. P. Cheramy-bien et al., Evaluation biologique du stress oxydant: application en routine clinique, Nutr. Endocrinol, pp.16-31, 2009.

J. Pincemail, S. Vanbelle, U. Gaspard, G. Collette, J. Haleng et al., Effect of different contraceptive methods on the oxidative stress status in women aged 40 48 years from the ELAN study in the province of Liege, Hum. Reprod, vol.22, pp.2335-2343, 2007.

H. Tohma, A. R. Hepworth, T. Shavlakadze, M. D. Grounds, and P. G. Arthur, Quantification of ceroid and lipofuscin in skeletal muscle, J. Histochem. Cytochem, vol.59, pp.769-779, 2011.

R. J. Ragusa, C. K. Chow, and J. D. Porter, Oxidative stress as a potential pathogenic mechanism in an animal model of Duchenne muscular dystrophy, Neuromuscul. Disord, vol.7, pp.379-386, 1997.

M. C. Rodriguez and M. A. Tarnopolsky, Patients with dystrophinopathy show evidence of increased oxidative stress. Free Radic, Biol. Med, vol.34, pp.1217-1220, 2003.

Y. Nakae, P. J. Stoward, T. Kashiyama, M. Shono, A. Akagi et al., Early onset of lipofuscin accumulation in dystrophin-deficient skeletal muscles of DMD patients and mdx mice, J. Mol. Histol, vol.35, pp.489-499, 2004.

R. J. Keller, N. C. Halmes, J. A. Hinson, and N. R. Pumford, Immunochemical detection of oxidized proteins, Chem. Res. Toxicol, vol.6, pp.430-433, 1993.

E. R. Stadtman and R. L. Levine, Protein oxidation, Ann. N. Y. Acad. Sci, vol.899, pp.191-208, 2000.

M. Vendelin, N. Beraud, K. Guerrero, T. Andrienko, A. V. Kuznetsov et al., Mitochondrial regular arrangement in muscle cells: a crystal-like pattern, Am. J. Physiol. Cell Physiol, vol.288, pp.757-767, 2005.
URL : https://hal.archives-ouvertes.fr/inserm-00391045

P. Sirvent, S. Bordenave, M. Vermaelen, B. Roels, G. Vassort et al., Simvastatin induces impairment in skeletal muscle while heart is protected, Biochem. Biophys. Res. Commun, vol.338, pp.1426-1434, 2005.

A. V. Kuznetsov, V. Veksler, F. N. Gellerich, V. Saks, R. Margreiter et al., Analysis of mitochondrial function in situ in permeabilized muscle fibers, tissues and cells, Nat. Protoc, vol.3, pp.965-976, 2008.

R. Ouhabi, M. Boue-grabot, J. P. Mazat, and A. T. Mitochondrial, synthesis in permeabilized cells: assessment of the ATP/O values in situ, Anal. Biochem, vol.263, pp.169-175, 1998.

S. M. Cardoso, M. T. Proenca, S. Santos, I. Santana, and C. R. Oliveira, Cytochrome c oxidase is decreased in Alzheimer's disease platelets, Neurobiol. Aging, vol.25, pp.105-110, 2004.

M. F. Beal, Excitotoxicity and nitric oxide in Parkinson's disease pathogenesis, Ann. Neurol, vol.44, pp.110-114, 1998.

S. Van-koningsbruggen, R. W. Dirks, A. M. Mommaas, J. J. Onderwater, G. Deidda et al., FRG1P is localised in the nucleolus, Cajal bodies, and speckles, J. Med. Genet, vol.41, p.46, 2004.

S. Van-koningsbruggen, K. R. Straasheijm, E. Sterrenburg, N. De-graaf, H. G. Dauwerse et al., FRG1P-mediated aggregation of proteins involved in pre-mRNA processing, Chromosoma, vol.116, pp.53-64, 2007.

M. L. Hanel, R. D. Wuebbles, and P. L. Jones, Muscular dystrophy candidate gene FRG1 is critical for muscle development, Dev. Dyn, vol.238, pp.1502-1512, 2009.

R. D. Wuebbles, M. L. Hanel, and P. L. Jones, region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy, Dis. Model Mech, vol.2, pp.267-274, 2009.

M. Richards, F. Coppee, N. Thomas, A. Belayew, and M. Upadhyaya, Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?, Hum. Genet, vol.131, pp.325-340, 2012.

L. N. Geng, Z. Yao, L. Snider, A. P. Fong, J. N. Cech et al., DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy, Dev. Cell, vol.22, pp.38-51, 2012.

L. Sun, O. H. Franco, F. B. Hu, L. Cai, Z. Yu et al., Ferritin concentrations, metabolic syndrome, and type 2 diabetes in middle-aged and elderly chinese, J. Clin. Endocrinol. Metab, vol.93, pp.4690-4696, 2008.

S. Pietri, M. Culcasi, L. Stella, and P. J. Cozzone, Ascorbyl free radical as a reliable indicator of free-radical-mediated myocardial ischemic and post-ischemic injury. A real-time continuous-flow ESR study, Eur. J. Biochem, vol.193, pp.845-854, 1990.

S. Pietri, J. R. Seguin, P. D. Arbigny, and M. Culcasi, Ascorbyl free radical: a noninvasive marker of oxidative stress in human open-heart surgery. Free Radic, Biol. Med, vol.16, pp.523-528, 1994.

B. H. Rovin, J. A. Dickerson, L. C. Tan, and J. Fassler, Modulation of IL-1-induced chemokine expression in human mesangial cells through alterations in redox status, Cytokine, vol.9, pp.178-186, 1997.

L. R. Pena, D. B. Hill, and C. J. Mcclain, Treatment with glutathione precursor decreases cytokine activity, JPEN J. Parenter. Enteral Nutr, vol.23, pp.1-6, 1999.

J. J. Haddad, B. Safieh-garabedian, N. E. Saade, S. A. Kanaan, and S. C. Land, Chemioxyexcitation (delta pO2/ROS)-dependent release of IL-1 beta, IL-6 and TNF-alpha: evidence of cytokines as oxygen-sensitive mediators in the alveolar epithelium, Cytokine, vol.13, pp.138-147, 2001.

L. W. Chang, W. S. Lo, P. Lin, and . Trans, trans-2,4-decadienal, a product found in cooking oil fumes, induces cell proliferation and cytokine production due to reactive oxygen species in human bronchial epithelial cells, Toxicol. Sci, vol.87, pp.337-343, 2005.

L. A. Callahan, Z. W. She, and T. M. Nosek, Superoxide, hydroxyl radical, and hydrogen peroxide effects on single-diaphragm fiber contractile apparatus, J. Appl. Physiol, vol.90, pp.45-54, 2001.

T. Spencer and G. S. Posterino, Sequential effects of GSNO and H2O 2 on the Ca 2 þ sensitivity of the contractile apparatus of fast-and slow-twitch skeletal muscle fibers from the rat, Am. J. Physiol. Cell Physiol, vol.296, pp.1015-1023, 2009.

J. N. Edwards, W. A. Macdonald, C. Van-der-poel, and D. G. Stephenson, O2( n-) production at 37 degrees C plays a critical role in depressing tetanic force of isolated rat and mouse skeletal muscle, Am. J. Physiol. Cell Physiol, vol.293, pp.650-660, 2007.

V. A. Saks, V. I. Veksler, A. V. Kuznetsov, L. Kay, P. Sikk et al., Permeabilized cell and skinned fiber techniques in studies of mitochondrial function in vivo, Mol. Cell. Biochem, vol.184, pp.81-100, 1998.
URL : https://hal.archives-ouvertes.fr/inserm-00391349

D. R. Wood, J. S. Nye, N. J. Lamb, A. Fernandez, and M. Kitzmann, Intracellular retention of caveolin 1 in presenilin-deficient cells, J. Biol. Chem, vol.280, pp.6663-6668, 2005.

M. Royuela, D. Chazalette, G. Hugon, R. Paniagua, V. Guerlavais et al., Mornet, D. Formation of multiple complexes between beta-dystroglycan and dystrophin family products, J. Muscle Res. Cell Motil, vol.24, pp.387-397, 2003.

H. Ohkawa, N. Ohishi, and K. Yagi, Assay for lipid peroxides in animal tissues by thiobarbituric acid reaction, Anal. Biochem, vol.95, pp.351-358, 1979.

C. Koechlin, F. Maltais, D. Saey, A. Michaud, P. Leblanc et al., Hypoxaemia enhances peripheral muscle oxidative stress in chronic obstructive pulmonary disease, Thorax, vol.60, pp.834-841, 2005.

S. T. Omaye, J. D. Turnbull, and H. E. Sauberlich, Selected methods for the determination of ascorbic acid in animal cells, tissues, and fluids, Methods Enzymol, vol.62, pp.3-11, 1979.

B. Zhao, S. Y. Tham, J. Lu, M. H. Lai, L. K. Lee et al., Simultaneous determination of vitamins C, E and beta-carotene in human plasma by high-performance liquid chromatography with photodiode-array detection, J. Pharm. Pharm. Sci, vol.7, pp.200-204, 2004.

D. I. Thurnham, J. A. Davies, B. J. Crump, R. D. Situnayake, and M. Davis, The use of different lipids to express serum tocopherol: lipid ratios for the measurement of vitamin E status, Ann. Clin. Biochem, vol.23, pp.514-520, 1986.

K. F. Gey, Vitamins E plus C and interacting conutrients required for optimal health. A critical and constructive review of epidemiology and supplementation data regarding cardiovascular disease and cancer, Biofactors, vol.7, pp.113-174, 1998.

H. Baker, G. J. Handelman, S. Short, L. J. Machlin, H. N. Bhagavan et al., Comparison of plasma alpha and gamma tocopherol levels following chronic oral administration of either all-rac-alpha-tocopheryl acetate or RRR-alpha-tocopheryl acetate in normal adult male subjects, Am. J. Clin. Nutr, vol.43, pp.382-387, 1986.

S. Sturup, R. B. Hayes, and U. Peters, Development and application of a simple routine method for the determination of selenium in serum by octopole reaction system ICPMS, Anal. Bioanal. Chem, vol.381, pp.686-694, 2005.

D. R. Duling, Simulation of multiple isotropic spin-trap EPR spectra, J. Magn. Reson. B, vol.104, pp.105-110, 1994.