L. Stephan, D. Valérie-mialou, P. Michel-voisin, D. Anne-marie-devaux, D. B. Pautard et al., These individuals continue to follow the patients and contributed to data collection. We are grateful to the parents' association (Barth France), the patients and their families for their participation in this study, This research study was supported by grants from the Barth France Association

M. Service-de and . Pédiatrique, 13 Service de Génétique, Centre Hospitalo-Universitaire, 15 Centre de référence pour les maladies cardiaques héréditaires. 16 National reference Center for Complex Congenital Heart Defects-M3C

P. Barth, H. Scholte, J. Berden, J. Van-der-klei-van-moorsel, I. Luyt-houwen et al., An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes, Journal of the Neurological Sciences, vol.62, issue.1-3, pp.327-355, 1983.
DOI : 10.1016/0022-510X(83)90209-5

R. Kelley, J. Cheatham, B. Clark, M. Nigro, B. Powell et al., X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria, The Journal of Pediatrics, vol.119, issue.5, pp.738-747, 1991.
DOI : 10.1016/S0022-3476(05)80289-6

A. Takeda, A. Sudo, M. Yamada, H. Yamazawa, G. Izumi et al., Eponym, European Journal of Pediatrics, vol.30, issue.10, pp.1365-1367, 2011.
DOI : 10.1007/s00431-011-1575-6

S. Bione, D. Adamo, P. Maestrini, E. Gedeon, A. Bolhuis et al., A novel X-linked gene, G4.5. is responsible for Barth syndrome, Nature Genetics, vol.230, issue.4, pp.385-389, 1996.
DOI : 10.1016/0968-0004(86)90007-1

K. Hauff and G. Hatch, Cardiolipin metabolism and Barth Syndrome, Progress in Lipid Research, vol.45, issue.2, pp.91-101, 2006.
DOI : 10.1016/j.plipres.2005.12.001

P. Vreken, F. Valianpour, L. Nijtmans, L. Grivell, B. Plecko et al., Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome, Biochemical and Biophysical Research Communications, vol.279, issue.2, pp.378-382, 2000.
DOI : 10.1006/bbrc.2000.3952

J. Johnston, R. Kelley, A. Feigenbaum, G. Cox, G. Iyer et al., Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome, The American Journal of Human Genetics, vol.61, issue.5, pp.1053-1058, 1997.
DOI : 10.1086/301604

S. Clarke, A. Bowron, I. Gonzalez, S. Groves, R. Newbury-ecob et al., Barth syndrome, Orphanet Journal of Rare Diseases, vol.8, issue.1, p.23, 2013.
DOI : 10.1080/15227950500405429

A. Roberts, C. Nixon, C. Steward, K. Gauvreau, M. Maisenbacher et al., The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study, American Journal of Medical Genetics Part A, vol.6, issue.11, pp.2726-2732, 2012.
DOI : 10.1002/ajmg.a.35609

C. Spencer, R. Bryant, J. Day, I. Gonzalez, S. Colan et al., Cardiac and Clinical Phenotype in Barth Syndrome, PEDIATRICS, vol.118, issue.2, pp.337-346, 2006.
DOI : 10.1542/peds.2005-2667

K. Orstavik, R. Orstavik, A. Naumova, D. Adamo, P. Gedeon et al., X Chromosome Inactivation in Carriers of Barth Syndrome, The American Journal of Human Genetics, vol.63, issue.5, pp.1457-1463, 1998.
DOI : 10.1086/302095

A. Gedeon, M. Wilson, A. Colley, D. Sillence, and J. Mulley, X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome., Journal of Medical Genetics, vol.32, issue.5, pp.383-388, 1995.
DOI : 10.1136/jmg.32.5.383

S. Bleyl, B. Mumford, V. Thompson, J. Carey, T. Pysher et al., Neonatal, Lethal Noncompaction of the Left Ventricular Myocardium Is Allelic with Barth Syndrome, The American Journal of Human Genetics, vol.61, issue.4, pp.868-872, 1997.
DOI : 10.1086/514879

A. Cantlay, K. Shokrollahi, J. Allen, P. Lunt, R. Newbury-ecob et al., Genetic analysis of the G4.5 gene in families with suspected Barth syndrome, The Journal of Pediatrics, vol.135, issue.3, pp.311-315, 1999.
DOI : 10.1016/S0022-3476(99)70126-5

S. Rugolotto, M. Prioli, D. Toniolo, P. Pellegrino, S. Catuogno et al., Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study, Molecular Genetics and Metabolism, vol.80, issue.4, pp.408-411, 2003.
DOI : 10.1016/j.ymgme.2003.07.002

C. Spencer, B. Byrne, M. Gewitz, S. Wechsler, A. Kao et al., Ventricular Arrhythmia in the X-linked Cardiomyopathy Barth Syndrome, Pediatric Cardiology, vol.279, issue.5, pp.632-637, 2005.
DOI : 10.1007/s00246-005-0873-z

J. Mangat, T. Lunnon-wood, P. Rees, M. Elliott, and M. Burch, Successful cardiac transplantation in Barth syndrome - single-centre experience of four patients, Pediatric Transplantation, vol.9, issue.Suppl. 3, pp.327-331, 2007.
DOI : 10.1111/j.1399-3046.2006.00629.x

R. Hastings, C. Steward, B. Tsai-goodman, and R. Newbury-ecob, Dysmorphology of Barth syndrome, Clinical Dysmorphology, vol.18, issue.4, pp.185-187, 2009.
DOI : 10.1097/MCD.0b013e32832a9e62

R. Houtkooper, R. Rodenburg, C. Thiels, L. Van, F. Stet et al., Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography???mass spectrometry as a diagnostic test for Barth syndrome, Analytical Biochemistry, vol.387, issue.2, pp.230-237, 2009.
DOI : 10.1016/j.ab.2009.01.032

L. Lester, P. Sodt, N. Hutcheon, and R. Arcilla, M-mode echocardiography in normal children and adolescents: Some new perspectives, Pediatric Cardiology, vol.1, issue.1, pp.27-33, 1987.
DOI : 10.1007/BF02308381

C. Bellanne-chantelot, S. Clauin, T. Leblanc, B. Cassinat, F. Rodrigues-lima et al., Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register, Blood, vol.103, issue.11, pp.4119-4125, 2004.
DOI : 10.1182/blood-2003-10-3518

L. Cosson, A. Toutain, G. Simard, W. Kulik, G. Matyas et al., Barth syndrome in a female patient, Molecular Genetics and Metabolism, vol.106, issue.1, pp.115-120, 2012.
DOI : 10.1016/j.ymgme.2012.01.015

A. Brady, B. Shehata, and P. Fernhoff, X-linked fetal cardiomyopathy caused by a novel mutation in theTAZ gene, Prenatal Diagnosis, vol.348, issue.5, pp.462-465, 2006.
DOI : 10.1002/pd.1438

J. Christodoulou, R. Mcinnes, V. Jay, G. Wilson, L. Becker et al., Barth syndrome: Clinical observations and genetic linkage studies, American Journal of Medical Genetics, vol.32, issue.3, pp.255-264, 1994.
DOI : 10.1002/ajmg.1320500309

S. Hanke, A. Gardner, J. Lombardi, P. Manning, D. Nelson et al., Left Ventricular Noncompaction Cardiomyopathy in Barth Syndrome: An Example of an Undulating Cardiac Phenotype Necessitating Mechanical Circulatory Support as a Bridge to Transplantation, Pediatric Cardiology, vol.3, issue.8, pp.1430-1434, 2012.
DOI : 10.1007/s00246-012-0258-z

O. Sakamoto, T. Kitoh, T. Ohura, N. Ohya, and K. Iinuma, Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome, J Hum Genet, vol.47, pp.229-231, 2002.

C. Steward, R. Newbury-ecob, R. Hastings, S. Smithson, B. Tsai-goodman et al., Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth, Prenatal Diagnosis, vol.167, issue.10, pp.970-976, 2010.
DOI : 10.1002/pd.2599

W. Cade, C. Spencer, D. Reeds, A. Waggoner, O. Connor et al., Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome, Journal of Inherited Metabolic Disease, vol.285, issue.1, pp.91-101, 2012.
DOI : 10.1007/s10545-012-9486-x

M. Sabater-molina, E. Guillen-navarro, E. Garcia-molina, M. Ballesta-martinez, F. Escudero et al., Barth Syndrome in Adulthood: A Clinical Case, Revista Espa??ola de Cardiolog??a (English Edition), vol.66, issue.1, pp.68-70, 2013.
DOI : 10.1016/j.rec.2012.05.012

C. Spencer, B. Byrne, R. Bryant, R. Margossian, M. Maisenbacher et al., Impaired cardiac reserve and severely diminished skeletal muscle O2 utilization mediate exercise intolerance in Barth syndrome, AJP: Heart and Circulatory Physiology, vol.301, issue.5, pp.2122-2129, 2011.
DOI : 10.1152/ajpheart.00479.2010

L. Ades, A. Gedeon, M. Wilson, M. Latham, M. Partington et al., Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28, American Journal of Medical Genetics, vol.333, issue.3, pp.327-334, 1993.
DOI : 10.1002/ajmg.1320450309

P. Barth, F. Valianpour, V. Bowen, J. Lam, M. Duran et al., Wanders RJ: X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update, Am J Med Genet A, vol.126, pp.349-354, 2004.

F. Scaglia, J. Towbin, W. Craigen, J. Belmont, E. Smith et al., Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease, PEDIATRICS, vol.114, issue.4, pp.925-931, 2004.
DOI : 10.1542/peds.2004-0718

S. Adwani, B. Whitehead, P. Rees, A. Morris, D. Turnball et al., Heart Transplantation for Barth Syndrome, Pediatric Cardiology, vol.18, issue.2, pp.143-145, 1997.
DOI : 10.1007/s002469900135

J. Donadieu, O. Fenneteau, B. Beaupain, N. Mahlaoui, and C. Bellanne, Congenital neutropenia: diagnosis, molecular bases and patient management, Orphanet Journal of Rare Diseases, vol.6, issue.1, p.26, 2011.
DOI : 10.1038/sj.ejhg.5200366

P. Barth and R. Wanders, X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)???MIM 302060, The Journal of Pediatrics, vol.135, issue.3, pp.273-276, 1999.
DOI : 10.1016/S0022-3476(99)70118-6

D. Coman, J. Yaplito-lee, and A. Boneh, New indications and controversies in arginine therapy, Clinical Nutrition, vol.27, issue.4, pp.489-496, 2008.
DOI : 10.1016/j.clnu.2008.05.007

M. Jarvis, P. Garrett, and L. Svien, Gross Motor Development of a Toddler with Barth Syndrome, an X-Linked Recessive Disorder: A Case Report, Pediatric Physical Therapy, vol.13, issue.4, pp.175-181, 2001.
DOI : 10.1097/00001577-200113040-00005

P. Bolhuis, G. Hensels, T. Hulsebos, F. Baas, and P. Barth, Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28, Am J Hum Genet, vol.48, pp.481-485, 1991.

B. Chang, N. Momoi, L. Shan, M. Mitomo, Y. Aoyagi et al., Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction, Molecular Genetics and Metabolism, vol.100, issue.2, pp.198-203, 2010.
DOI : 10.1016/j.ymgme.2010.02.021

M. Schmidt, N. Birkebaek, I. Gonzalez, and L. Sunde, Barth syndrome without 3-methylglutaconic aciduria, Acta Paediatrica, vol.72, issue.3, pp.419-421, 2004.
DOI : 10.1111/j.1651-2227.2004.tb02974.x

. Rigaud, Natural history of Barth syndrome: a national cohort study of 22 patients, Orphanet Journal of Rare Diseases, vol.8, issue.1, p.70, 2013.
DOI : 10.1111/j.1651-2227.2004.tb02974.x
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