G. Bonne, M. R. Di-barletta, S. Varnous, H. Becane, E. H. Hammouda et al.,

, Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy, Nature Genet, vol.21, pp.285-288

A. E. Emery and F. E. Dreifuss, Unusual type of benign X-linked muscular dystrophy, J. Neurol. Neurosurg. Psychiat, vol.29, pp.338-342, 1966.

T. Sanna, A. Dello-russo, D. Toniolo, M. Vytopil, G. Pelargonio et al., Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations, Eur. Heart J, vol.24, pp.2227-2236, 2003.

G. Captur, E. Arbustini, G. Bonne, P. Syrris, K. Mills et al., Lamin and the heart, Heart, vol.104, pp.468-479, 2018.

F. Lin and H. J. Worman, Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C, J. Biol. Chem, vol.268, pp.16321-16326, 1993.

A. Muchir, P. Pavlidis, V. Decostre, A. J. Herron, T. Arimura et al., , 2007.

, Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy, J. Clin. Invest, vol.117, pp.1282-1293

A. Muchir, W. Wu, J. C. Choi, S. Iwata, J. Morrow et al., Abnormal p38alpha mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation, Hum. Mol. Genet, vol.21, pp.4325-4333, 2012.

M. Chatzifrangkeskou, D. Yadin, T. Marais, S. Chardonnet, M. Cohen-tannoudji et al., Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation, Hum. Mol. Genet, vol.27, pp.3060-3078, 2018.
URL : https://hal.archives-ouvertes.fr/hal-01962065

L. Dour, C. Macquart, C. Sera, F. Homma, S. Bonne et al., , 2017.

, Decreased Wnt/b-catenin signaling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin A/C gene, Hum. Mol. Genet, vol.26, pp.333-343

M. Chatzifrangkeskou, C. Le-dour, W. Wu, J. P. Morrow, L. C. Joseph et al.,

, ERK1/2 directly acts on CTGF/CCN2 expresssion to mediate fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene, Hum. Mol. Genet, vol.25, pp.2220-2233

N. Vignier, M. Chatzifrangkeskou, B. M. Rodriguez, M. Mericskay, N. Mougenot et al., Rescue of biosynthesis of nicotinamide adenine dinucleotide (NAD+) protects the heart in cardiomyopathy caused by lamin A/C gene mutation, Hum. Mol. Genet, vol.27, pp.3870-3880, 2018.

J. C. Choi, A. Muchir, W. Wu, S. Iwata, S. Homma et al., Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation, Sci. Transl. Med, vol.4, pp.144-102, 2012.

W. Wu, A. Muchir, J. Shan, G. Bonne, and H. J. Worman, Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene, Circulation, vol.123, pp.53-61, 2011.

D. R. Bassett, . Jr, and E. T. Howley, Limiting factors for maximum oxygen uptake and determinants of endurance performance, Med. Sci. Sports Exerc, vol.32, pp.70-84, 2000.

M. A. Hoydal, U. Wisloff, O. J. Kemi, and O. Ellingsen, Running speed and maximal oxygen uptake in rats and mice: practical implications for exercise training, Eur. J. Cardiovasc. Prev, vol.14, pp.753-760, 2007.

T. Arimura, A. Helbling-leclerc, C. Massart, S. Varnous, F. Niel et al., Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies, Hum. Mol. Genet, vol.14, pp.155-169, 2005.
URL : https://hal.archives-ouvertes.fr/hal-00165763

P. J. Chase, A. Kenjale, L. P. Cahalin, R. Arena, P. G. Davis et al., Effects of respiratory exchange ratio on the prognostic value of peak oxygen consumption and ventilator efficiency in patients with systolic heart failure, JACC Heart Fail, vol.1, pp.427-432, 2013.

A. Mezzani, U. Corrà, E. Bosimini, A. Giordano, and P. Giannuzzi, Contribution of peak respiratory exchange ratio to peak VO2 prognostic reliability in patients with chronic heart failure and severely rduced exercise capacity, Am. Heart J, vol.145, pp.1102-1107, 2003.

A. B. Rocco, J. C. Levalley, J. A. Eldridge, S. A. Marsh, and B. D. Rodgers, A novel protocol for assessing exercise performance and dystropathophysiology in the mdx mouse, Muscle & Nerve, vol.50, pp.541-548, 2014.

J. Ritterhoff and R. Tian, Metabolism in cardiomyopathy: every substrate matters, Cardiovasc. Res, vol.113, pp.411-421, 2017.

E. Cavallari, C. Carrera, M. Sorge, G. Bonne, A. Muchir et al., The 13 C hyperpolarized pyruvate generated by ParaHydrogen detects the response of the heart to altered metabolism in real time, Sci. Rep, vol.8, p.8366, 2018.

A. Savitzky and M. J. Golay, Smoothing and Differentiation of Data by Simplified Least Squares Procedures, Anal. Chem, vol.36, pp.1627-1639, 1964.