V. Mckusick, Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders 12th edition, 1998.

A. Spiro, G. Shy, and N. Gonatas, Myotubular Myopathy, Archives of Neurology, vol.14, issue.1, pp.1-14, 1966.
DOI : 10.1001/archneur.1966.00470070005001

C. Wallgren-pettersson, Congenital nemaline myopathy, Journal of the Neurological Sciences, vol.89, issue.1, pp.1-14, 1990.
DOI : 10.1016/0022-510X(89)90002-6

M. Hughes, E. Hicks, N. Nevin, and V. Patterson, The prevalence of inherited neuromuscular disease in Northern Ireland, Neuromuscular Disorders, vol.6, issue.1, pp.69-73, 1996.
DOI : 10.1016/0960-8966(94)00017-4

N. Darin, M. Tulinius, G. Van-wijngaarden, P. Fleury, J. Bethlem et al., Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden, Neuromuscular Disorders, vol.10, issue.1, pp.1-9901, 1969.
DOI : 10.1016/S0960-8966(99)00055-3

K. Meyers, H. Golomb, J. Hansen, and V. Mckusick, Familial neuromuscular disease with ???myotubes???, Clinical Genetics, vol.19, issue.4, pp.327-337, 1974.
DOI : 10.1111/j.1399-0004.1974.tb01702.x

P. Barth, G. Van-wijngaarden, and J. Bethlem, X-linked myotubular myopathy with fatal neonatal asphyxia, Neurology, vol.25, issue.6, pp.531-536, 1975.
DOI : 10.1212/WNL.25.6.531

M. Ambler, C. Neave, B. Tutschka, S. Pueschel, J. Orson et al., X-linked recessive myotubular myopathy: I. Clinical and pathologic findings in a family, Human Pathology, vol.15, issue.6, pp.566-574, 1984.
DOI : 10.1016/S0046-8177(84)80011-8

J. Heckmatt, C. Sewry, D. Hodes, and V. Dubowitz, CONGENITAL CENTRONUCLEAR (MYOTUBULAR) MYOPATHY, Brain, vol.108, issue.4, pp.941-964, 1985.
DOI : 10.1093/brain/108.4.941

L. Keppen, M. Husain, and R. Woody, X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female, Clinical Genetics, vol.19, issue.2, pp.95-99, 1987.
DOI : 10.1111/j.1399-0004.1987.tb03332.x

A. Oldfors, M. Kyllerman, J. Wahlström, C. Darnfors, and K. Henriksson, X-linked myotubular myopathy: clinical and pathological findings in a family, Clinical Genetics, vol.19, issue.1, pp.5-14, 1989.
DOI : 10.1111/j.1399-0004.1989.tb03360.x

S. Braga, A. Gerber, C. Meier, A. Weiersmueller, A. Zimmermann et al., Severe neonatal asphyxia due to X-linked centronuclear myopathy, European Journal of Pediatrics, vol.41, issue.2, pp.132-135, 1990.
DOI : 10.1007/BF02072056

W. Lo, R. Barohn, R. Bobulski, . Bobulski, J. Kean et al., Centronuclear Myopathy and Type-1 Hypotrophy Without Central Nuclei, Archives of Neurology, vol.47, issue.3, pp.273-276, 1990.
DOI : 10.1001/archneur.1990.00530030039013

G. Breningstall, W. Grover, and H. Marks, Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy, American Journal of Medical Genetics, vol.41, issue.1
DOI : 10.1002/ajmg.1320390105

R. Tyson, S. Ringel, D. Manchester, R. Shikes, and S. Goodman, X-Linked Myotubular Myopathy: A Case Report of Prenatal and Perinatal Aspects, Pediatric Pathology, vol.32, issue.4, pp.535-543, 1992.
DOI : 10.3109/15513819209024203

C. Wallgren-pettersson and N. Thomas, Report on the 20th ENMC Sponsored International Workshop: Myotubular/Centronuclear Myopathy, Neuromuscular Disorders, vol.4, issue.1, pp.71-74, 1994.
DOI : 10.1016/0960-8966(94)90050-7

C. Wallgren-pettersson, A. Clarke, F. Samson, M. Fardeau, V. Dubowitz et al., The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies., Journal of Medical Genetics, vol.32, issue.9, pp.673-679, 1995.
DOI : 10.1136/jmg.32.9.673

M. Mcentagart, G. Parsons, A. Buj-bello, V. Biancalana, I. Fenton et al., Genotype???phenotype correlations in X-linked myotubular myopathy, Neuromuscular Disorders, vol.12, issue.10, pp.939-946, 2002.
DOI : 10.1016/S0960-8966(02)00153-0

J. Osborne, E. Murphy, and A. Hill, THIN RIBS ON CHEST X-RAY; A USEFUL SIGN IN THE DIFFERENTIAL DIAGNOSIS OF THE FLOPPY NEWBORN, Developmental Medicine & Child Neurology, vol.7, issue.3, pp.343-345, 1983.
DOI : 10.1111/j.1469-8749.1983.tb13768.x

A. Teeuw, P. Barth, L. Van-sonderen, and H. Zondervan, 3 examples of fetal genetic neuromuscular disorders which lead to hydramnion, Ned Tijdschr Geneeskd, vol.137, pp.908-913, 1993.

P. Barth and V. Dubowitz, X-linked myotubular myopathy ??? A long-term follow-up study, European Journal of Paediatric Neurology, vol.2, issue.1, pp.49-56, 1998.
DOI : 10.1016/1090-3798(98)01004-9

J. Leguennec, J. Bernier, and J. Lamarche, High Stature in Neonatal Myotubular Myopathy, Acta Paediatrica, vol.109, issue.4, pp.610-611, 1988.
DOI : 10.1007/BF00313942

M. Joseph, G. Pai, K. Holden, and G. Herman, X-linked myotubular myopathy: Clinical observations in ten additional cases, American Journal of Medical Genetics, vol.19, issue.2, pp.168-173, 1995.
DOI : 10.1002/ajmg.1320590211

H. Sarnat, S. Roth, and J. Jimenez, SUMMARY:, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, vol.79, issue.04, pp.313-320, 1981.
DOI : 10.1016/0012-1606(68)90015-8

G. Herman, M. Finegold, W. Zhao, B. De-gouyon, and A. Metzenberg, Medical complications in long-term survivors with X-linked myotubular myopathy, The Journal of Pediatrics, vol.134, issue.2, pp.206-214, 1999.
DOI : 10.1016/S0022-3476(99)70417-8

S. Yu, J. Manson, S. White, A. Bourne, H. Waddy et al., X-linked myotubular myopathy in a family with three adult survivors, Clinical Genetics, vol.12, issue.2, pp.148-152, 2003.
DOI : 10.1034/j.1399-0004.2003.00118.x

V. Biancalana, O. Caron, S. Gallati, F. Baas, W. Kress et al., Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype, Hum Genet, vol.112, pp.135-142, 2003.

S. Chanzy, M. Routon, S. Moretti, C. De-gennes, and J. Mselati, Forme inhabituelle de bon pronostic de la myopathie myotubulaire li??e ?? l???X, Archives de P??diatrie, vol.10, issue.8, pp.707-709, 2003.
DOI : 10.1016/S0929-693X(03)00287-2

L. Hu, J. Laporte, W. Kress, P. Kioschis, R. Siebenhaar et al., Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb Region, Human Molecular Genetics, vol.5, issue.1, pp.139-143, 1999.
DOI : 10.1093/hmg/5.1.139

M. Fukami, Y. Wada, K. Miyabayashi, I. Nishino, T. Hasegawa et al., CXorf6 is a causative gene for hypospadias, Nature Genetics, vol.124, issue.12, pp.381369-1371, 2006.
DOI : 10.1038/ng1900

URL : https://hal.archives-ouvertes.fr/hal-00187913

J. Sawchak, J. Sher, M. Norman, R. Kula, and S. Shafiq, Centronuclear myopathy heterogeneity: Distinction of clinical types by myosin isoform patterns, Neurology, vol.41, issue.1, pp.135-140, 1991.
DOI : 10.1212/WNL.41.1.135

S. Hammans, D. Robinson, C. Moutou, C. Kennedy, N. Dennis et al., A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy, Neuromuscular Disorders, vol.10, issue.2, pp.133-137, 2000.
DOI : 10.1016/S0960-8966(99)00073-5

C. Wallgren-pettersson, Report of the 72nd ENMC International Workshop on Myotubular Myopathy, Hilversum, The Netherlands, Neuromuscul Disord, vol.10, pp.1-3521, 1999.

S. Tanner, K. Orstavik, M. Kristiansen, D. Lev, T. Lerman-sagie et al., Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother, Human Genetics, vol.104, issue.3, pp.249-253, 1999.
DOI : 10.1007/s004390050943

I. Sutton, J. Winer, A. Norman, S. Liechti-gallati, and F. Macdonald, Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations, Neurology, vol.57, issue.5, pp.900-902, 2001.
DOI : 10.1212/WNL.57.5.900

H. Jungbluth, C. Sewry, A. Buj-bello, M. Kristiansen, K. Orstavik et al., Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation, Neuromuscular Disorders, vol.13, issue.1, pp.55-59, 2003.
DOI : 10.1016/S0960-8966(02)00194-3

U. Schara, W. Kress, J. Tucke, and W. Mortier, X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation, Neurology, vol.60, issue.8, pp.1363-1365, 2003.
DOI : 10.1212/01.WNL.0000058763.90924.FA

M. Kristiansen, G. Knudsen, S. Tanner, M. Mcentagart, H. Jungbluth et al., X-inactivation patterns in carriers of X-linked myotubular myopathy, Neuromuscular Disorders, vol.13, issue.6, pp.468-471, 2003.
DOI : 10.1016/S0960-8966(03)00067-1

N. Dahl, L. Hu, C. M. Fardeau, M. Gilgenkrantz, S. Nivelon-chevallier et al., Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X-inactivation assigns the MTM1 gene to a 600-kb region, Am J Hum Genet, vol.56, pp.1108-1115, 1995.

D. Angelis, M. Palmucci, L. Leone, M. Doriguzzi, and C. , Centronuclear myopathy: clinical, morphological and genetic characters a review of 288 cases, Journal of the Neurological Sciences, vol.103, issue.1, pp.2-9, 1991.
DOI : 10.1016/0022-510X(91)90275-C

J. Sher, A. Rimalovski, T. Athanassiades, and S. Aronson, Familial centronuclear myopathy: A clinical and pathological study, Neurology, vol.17, issue.8, pp.727-742, 1967.
DOI : 10.1212/WNL.17.8.727

H. Radu, I. Killyen, V. Ionescu, and A. Radu, Myotubular (Centronuclear) (Neuro-)Myopathy, European Neurology, vol.15, issue.5, pp.285-300, 1977.
DOI : 10.1159/000114815

W. Verhiest, J. Brucher, P. Goddeeris, J. Lauweryns, D. Geest et al., Familial centronuclear myopathy associated with 'cardiomyopathy'., Heart, vol.38, issue.5, pp.504-509, 1976.
DOI : 10.1136/hrt.38.5.504

G. Serratrice, J. Pellissier, M. Faugére, and J. Gastaut, Centronuclear myopathy: Possible central nervous system origin, Muscle AND Nerve, vol.123, issue.1, pp.62-69, 1978.
DOI : 10.1002/mus.880010109

L. Pavone, F. Mollica, A. Grasso, and G. Pero, Familial centronuclear myopathy, Acta Neurologica Scandinavica, vol.7, issue.1, pp.33-40, 1980.
DOI : 10.1111/j.1600-0404.1980.tb03001.x

R. Fitzsimons and J. Mcleod, Myopathy with pathological features of both centronuclear myopathy and multicore disease, Journal of the Neurological Sciences, vol.57, issue.2-3, pp.395-405, 1982.
DOI : 10.1016/0022-510X(82)90044-2

J. Martin, On some myopathies with oculomotor involvement, Acta Neurol Belg, vol.87, pp.207-228, 1987.

B. Müller, M. Mostacciuolo, G. Danieli, and T. Grimm, Problems in genetic counseling in a family with an ???atypical??? centronuclear myopathy, American Journal of Medical Genetics, vol.132, issue.3, pp.417-419, 1989.
DOI : 10.1002/ajmg.1320320330

P. Jeannet, G. Bassez, B. Eymard, P. Laforêt, J. Urtizberea et al., Clinical and histologic findings in autosomal centronuclear myopathy, Neurology, vol.62, issue.9, pp.1484-1490, 2004.
DOI : 10.1212/01.WNL.0000124388.67003.56

A. Moosa and A. Dawood, Centronuclear Myopathy in Black African Children - Report of 4 Cases, Neuropediatrics, vol.18, issue.04, pp.213-217, 1987.
DOI : 10.1055/s-2008-1052483

E. Zanoteli, A. Oliveira, B. Kiyomoto, B. Schmidt, and A. Gabbai, Histopathological aspects in ten patients with childhood onset

E. Zanoteli, A. Guimaraes, R. Martins, H. Yamashita, C. Toledo et al., Temporomandibular joint involvement in a patient with centronuclear myopathy, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, vol.90, issue.1, pp.118-121, 2000.
DOI : 10.1067/moe.2000.107051

M. Siegel, Foot Deformity in Myotubular Myopathy, Archives of Neurology, vol.40, issue.9, p.589, 1983.
DOI : 10.1001/archneur.1983.04050080089020

M. Pages and J. Cesari, Pages AM: Centronuclear myopathy. Complete review of the literature apropos of a case, Ann Pathol, vol.2, pp.301-310, 1982.

S. Gospe, . Jr, D. Armstrong, M. Gresik, and H. Hawkins, Life-threatening congestive heart failure as the presentation of centronuclear myopathy, Pediatric Neurology, vol.3, issue.2, pp.117-120, 1987.
DOI : 10.1016/0887-8994(87)90040-3

J. Bataille, F. Guillon, A. Urtizberea, B. Estournet, S. Richard et al., Pathological anatomy of the heart in myopathies and infantile muscular atrophies, Ann Med Interne, vol.142, pp.5-8, 1991.

J. Alonso, M. Cavaliere, S. Gagioti, A. Atalla, I. Nascimento et al., Miopatia miotubular: estudo clinico, eletrofisiologico e histologico de um caso, Arquivos de Neuro-Psiquiatria, vol.39, issue.4, pp.450-472, 1981.
DOI : 10.1590/S0004-282X1981000400011

URL : http://doi.org/10.1590/s0004-282x1981000400011

A. Nicot, A. Toussaint, V. Tosch, C. Kretz, C. Wallgren-pettersson et al., Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy, Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy, pp.1134-1139, 2007.
DOI : 10.1093/nar/16.1.369

URL : https://hal.archives-ouvertes.fr/hal-00189145

A. Muller, J. Baker, J. Duhadaway, K. Ge, G. Farmer et al., Targeted Disruption of the Murine Bin1/Amphiphysin II Gene Does Not Disable Endocytosis but Results in Embryonic Cardiomyopathy with Aberrant Myofibril Formation, Molecular and Cellular Biology, vol.23, issue.12, pp.4295-4306, 2003.
DOI : 10.1128/MCB.23.12.4295-4306.2003

E. Reske-nielsen, O. Hein-sørensen, and P. Vorre, Familial centronuclear myopathy: a clinical and pathological study, Acta Neurologica Scandinavica, vol.210, issue.3, pp.115-122, 1987.
DOI : 10.1111/j.1600-0404.1987.tb03554.x

X. Ferrer, C. Vital, M. Coquet, B. Deleplanque, E. Ellie et al., Myopathie centronucléaire autosomique dominante, Rev Neurol, vol.148, pp.622-630, 1992.

L. Cartier and J. Hernandez, [Late centronuclear myopathy: autosomal dominant form], Revista Medica de Chile, vol.124, pp.209-216, 1996.

L. Edström, R. Wroblewski, and W. Mair, Genuine myotubular myopathy, Muscle & Nerve, vol.55, issue.8, pp.604-613, 1982.
DOI : 10.1002/mus.880050804

H. Isaacs and M. Badenhorst, Centronuclear myopathy?an inherited neuromuscular disorder. A report of 3 cases, S Afr Med J, vol.80, pp.247-250, 1991.

G. Karpati, S. Carpenter, and R. Nelson, Type I muscle fibre atrophy and central nuclei, Journal of the Neurological Sciences, vol.10, issue.5, pp.489-500, 1970.
DOI : 10.1016/0022-510X(70)90027-4

J. Mcleod, W. Baker, A. Lethlean, and C. Shorey, Centronuclear myopathy with autosomal dominant inheritance, Journal of the Neurological Sciences, vol.15, issue.4, pp.375-387, 1972.
DOI : 10.1016/0022-510X(72)90166-9

S. Schochet, H. Zellweger, V. Ionasescu, and W. Mccormick, Centronuclear myopathy: Disease entity or a syndrome?, Journal of the Neurological Sciences, vol.16, issue.2, pp.215-228, 1972.
DOI : 10.1016/0022-510X(72)90091-3

M. Kinoshita, E. Satoyoshi, and N. Matsuo, ???Myotubular myopathy??? and ???type I fiber atrophy??? in a family, Journal of the Neurological Sciences, vol.26, issue.4, pp.575-582, 1975.
DOI : 10.1016/0022-510X(75)90058-1

W. Mortier, E. Michaelis, J. Becker, and G. L. , Centronucleäre Myopathie mit autosomal dominanten Erbgang, Humangenetik, vol.27, pp.199-215, 1975.
DOI : 10.1007/bf00278346

B. Pépin, J. Mikol, B. Goldstein, M. Haguenau, and S. Godlewski, Forme familiale de myopathie centronucleaire de l'adulte, Rev Neurol, vol.132, pp.845-857, 1976.

P. Bill, G. Cole, N. Proctor, D. Saffer, and A. Botes, Crural hypertrophy associated with centronuclear myopathy, Journal of Neurology, Neurosurgery & Psychiatry, vol.42, issue.6, pp.542-547, 1979.
DOI : 10.1136/jnnp.42.6.542

C. Torres, R. Griggs, and J. Goetz, Severe Neonatal Centronuclear Myopathy With Autosomal Dominant Inheritance, Archives of Neurology, vol.42, issue.10, pp.1011-1014, 1985.
DOI : 10.1001/archneur.1985.04060090093023

M. Lovaste, D. Aldovini, and G. Ferrari, Centronuclear Myopathy with Unusual Clinical Picture, European Neurology, vol.26, issue.3, pp.153-160, 1987.
DOI : 10.1159/000116328

K. Felice and M. Grunnet, Autosomal dominant centronuclear myopathy: Report of a new family with clinical features simulating facioscapulohumeral syndrome, Muscle & Nerve, vol.32, issue.9, pp.1194-1196, 1997.
DOI : 10.1002/(SICI)1097-4598(199709)20:9<1194::AID-MUS19>3.0.CO;2-T

D. Fischer, M. Herasse, M. Bitoun, . Barragan-campos, J. Chiras et al., Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy, Brain, vol.129, issue.6, pp.1463-1469, 2006.
DOI : 10.1093/brain/awl071

J. Schessl, L. Medne, Y. Hu, Y. Zou, M. Brown et al., MRI in DNM2-related centronuclear myopathy: Evidence for highly selective muscle involvement, Neuromuscular Disorders, vol.17, issue.1, pp.28-32, 2007.
DOI : 10.1016/j.nmd.2006.09.013

A. Echaniz-laguna, A. Nicot, S. Carré, J. Franques, C. Tranchant et al., Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation, Neuromuscular Disorders, vol.17, issue.11-12, pp.11-12955, 2007.
DOI : 10.1016/j.nmd.2007.06.467

URL : https://hal.archives-ouvertes.fr/hal-00207313

M. Bitoun, J. Bevilacqua, B. Prudhon, S. Maugenre, A. Taratuto et al., Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset, Annals of Neurology, vol.64, issue.6, pp.62666-670, 2007.
DOI : 10.1002/ana.21235

H. Jungbluth, H. Zhou, C. Sewry, S. Robb, S. Treves et al., Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene, Neuromuscular Disorders, vol.17, issue.4, pp.338-345, 2007.
DOI : 10.1016/j.nmd.2007.01.016

URL : https://hal.archives-ouvertes.fr/hal-00189980

H. Jungbluth, H. Zhou, L. Hartley, B. Halliger-keller, S. Messina et al., Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene, Neurology, vol.65, issue.12, pp.651930-1935, 2005.
DOI : 10.1212/01.wnl.0000188870.37076.f2

R. Quinn, W. Pae, S. Mcgary, and G. Wickey, Development of malignant hyperthermia during mitral valve replacement, The Annals of Thoracic Surgery, vol.53, issue.6
DOI : 10.1016/0003-4975(92)90403-Q

N. Thomas, M. Sarfarazi, and K. Roberts, X-linked myotubular myopathy (MTM1): evidence for linkage to Xq28 markers, Cytogenet Cell Genet, vol.46, 1987.
DOI : 10.1136/jmg.27.5.284

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017076

C. Darnfors, H. Larsson, A. Oldfors, M. Kyllerman, K. Gustavson et al., X-linked myotubular myopathy: a linkage study, Clinical Genetics, vol.36, issue.5, pp.335-340, 1990.
DOI : 10.1111/j.1399-0004.1990.tb03515.x

A. Lehesjoki, E. Sankila, J. Miao, M. Somer, R. Salonen et al., X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28., Journal of Medical Genetics, vol.27, issue.5, pp.288-291, 1990.
DOI : 10.1136/jmg.27.5.288

J. Starr, M. Lamont, J. Iselius, J. Harvey, and J. Heckmatt, A linkage study of a large pedigree with X linked centronuclear myopathy., Journal of Medical Genetics, vol.27, issue.5, pp.281-283, 1990.
DOI : 10.1136/jmg.27.5.281

N. Thomas, H. Williams, G. Cole, K. Roberts, A. Clarke et al., X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci., Journal of Medical Genetics, vol.27, issue.5, pp.284-287, 1990.
DOI : 10.1136/jmg.27.5.284

S. Liechti-gallati, B. Müller, T. Grimm, W. Kress, C. Mueller et al., X-linked centronuclear myopathy: Mapping the gene to Xq28, Neuromuscular Disorders, vol.1, issue.4, pp.239-245, 1991.
DOI : 10.1016/0960-8966(91)90096-B

N. Dahl, F. Samson, N. Thomas, L. Hu, W. Gong et al., X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)., Journal of Medical Genetics, vol.31, issue.12, pp.922-924, 1994.
DOI : 10.1136/jmg.31.12.922

S. Liechti-gallati, G. Wolff, K. Uwe-peter, and S. Braga, Prenatal Diagnosis of X-Linked Centronuclear Myopathy by Linkage Analysis, Pediatric Research, vol.33, issue.2, pp.201-204, 1993.
DOI : 10.1203/00006450-199302000-00022

E. Janssen, G. Hensels, B. Van-oost, B. Hamel, S. Kemp et al., The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28, Neuromuscular Disorders, vol.4, issue.5-6, pp.455-461, 1994.
DOI : 10.1016/0960-8966(94)90084-1

J. Laporte, L. Hu, C. Kretz, J. Mandel, P. Kioschis et al., A gene mutated in X???linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast, Nature Genetics, vol.269, issue.2, pp.175-182, 1996.
DOI : 10.1146/annurev.physiol.53.1.201

J. Laporte, C. Guiraud-chaumeil, M. Vincent, J. Mandel, S. Tanner et al., Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro- Muscular Center, Human Molecular Genetics, vol.6, issue.9, pp.1505-1511, 1997.
DOI : 10.1093/hmg/6.9.1505

J. Laporte, V. Biancalana, S. Tanner, W. Kress, V. Schneider et al., MTM1 mutations in X-linked myotubular myopathy, Human Mutation, vol.2, issue.5, pp.1393-409, 2000.
DOI : 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R

S. Tanner, V. Schneider, N. Thomas, A. Clarke, L. Lazarou et al., Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients, Neuromuscular Disorders, vol.9, issue.1, pp.41-49, 1999.
DOI : 10.1016/S0960-8966(98)00090-X

G. Herman, K. Kopacz, W. Zhao, P. Mills, A. Metzenberg et al., Characterization of mutations in fifty North American patients with X-linked myotubular myopathy, Human Mutation, vol.270, issue.2, pp.114-121, 2002.
DOI : 10.1002/humu.10033

T. Tsai, H. Horinouchi, S. Noguchi, N. Minami, K. Murayama et al., Nonaka I, Nishino I: Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism, Neuromuscul Disord, vol.5, issue.3, pp.245-252, 2005.

E. Flex, D. Luca, A. , D. Apice, M. Buccino et al., Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC), Neuromuscular Disorders, vol.12, issue.5, pp.501-505, 2002.
DOI : 10.1016/S0960-8966(01)00328-5

E. Bertini, V. Biancalana, A. Bolino, A. Buj-bello, M. Clague et al., th ENMC International Workshop on Advances in Myotubular Myopathy, Neuromuscul Disord, vol.26, issue.14, pp.118387-396, 2003.

B. De-gouyon, W. Zhao, J. Laporte, J. Mandel, A. Metzenberg et al., Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy, Human Molecular Genetics, vol.6, issue.9, pp.1499-1504, 1997.
DOI : 10.1093/hmg/6.9.1499

I. Nishino, N. Minami, O. Kobayashi, M. Ikezawa, Y. Goto et al., MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy, Neuromuscular Disorders, vol.8, issue.7, pp.453-458, 1998.
DOI : 10.1016/S0960-8966(98)00075-3

A. Donnelly, E. Haan, J. Manson, and J. Mulley, A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy, Human Mutation, vol.32, issue.4, p.334, 1998.
DOI : 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#

A. Buj-bello, V. Biancalana, C. Moutou, J. Laporte, and J. Mandel, Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy, Human Mutation, vol.32, issue.4, pp.320-325, 1999.
DOI : 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O

D. Luca, A. Torrente, I. Mangino, M. Bertini, E. Dallapiccola et al., A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy, Human Heredity, vol.49, issue.1, pp.59-60, 1999.
DOI : 10.1159/000022843

M. Vincent, C. Guiraud-chaumeil, J. Laporte, S. Manouvrier-hanu, and J. Mandel, Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity., Journal of Medical Genetics, vol.35, issue.3, pp.241-243, 1998.
DOI : 10.1136/jmg.35.3.241

B. Hane, R. Rogers, and C. Schwartz, Germline mosaicism in X-linked myotubular myopathy, Clinical Genetics, vol.32, issue.1, pp.77-81, 1999.
DOI : 10.1086/301766

C. Pierson, P. Agrawal, J. Blasko, and A. Beggs, Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy, Neuromuscular Disorders, vol.17, issue.7, pp.562-568, 2007.
DOI : 10.1016/j.nmd.2007.03.010

G. Fabrizi, M. Ferrarini, T. Cavallaro, I. Cabrini, R. Cerini et al., Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease, Neurology, vol.69, issue.3, pp.291-295, 2007.
DOI : 10.1212/01.wnl.0000265820.51075.61

M. Bitoun, T. Stojkovic, B. Prudhon, C. Maurage, P. Latour et al., A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings, Neuromuscular Disorders, vol.18, issue.4, pp.334-338, 2008.
DOI : 10.1016/j.nmd.2008.01.005

K. Unsworth, P. Mazurkiewicz, F. Senf, M. Zettl, M. Mcniven et al., Dynamin is required for F-actin assembly and pedestal formation by enteropathogenic Escherichia coli (EPEC), Cellular Microbiology, vol.15, issue.2, pp.438-449, 2007.
DOI : 10.1242/jcs.01668

H. Thompson, H. Cao, J. Chen, U. Euteneuer, and M. Mcniven, Dynamin 2 binds ??-tubulin and participates in centrosome cohesion, Nature Cell Biology, vol.6, issue.4, pp.335-342, 2004.
DOI : 10.1038/ncb1112

S. Jones, K. Howell, J. Henley, H. Cao, and M. Mcniven, Role of Dynamin in the Formation of Transport Vesicles from the Trans-Golgi Network, Science, vol.279, issue.5350, pp.279573-577, 1998.
DOI : 10.1126/science.279.5350.573

M. Butler, C. David, G. Ochoa, Z. Freyberg, L. Daniell et al., Amphiphysin II (SH3P9; BIN1), a Member of the Amphiphysin/Rvs Family, Is Concentrated in the Cortical Cytomatrix of Axon Initial Segments and Nodes of Ranvier in Brain and around T Tubules in Skeletal Muscle, The Journal of Cell Biology, vol.307, issue.6, pp.1355-1367, 1997.
DOI : 10.1002/ana.410330202

A. Ramjaun, K. Micheva, I. Bouchelet, and P. Mcpherson, Identification and Characterization of a Nerve Terminal-enriched Amphiphysin Isoform, Journal of Biological Chemistry, vol.272, issue.26, pp.27216700-16706, 1997.
DOI : 10.1074/jbc.272.26.16700

B. Peter, H. Kent, I. Mills, Y. Vallis, P. Butler et al., BAR Domains as Sensors of Membrane Curvature: The Amphiphysin BAR Structure, Science, vol.303, issue.5657, pp.495-499, 2004.
DOI : 10.1126/science.1092586

A. Razzaq, I. Robinson, H. Mcmahon, J. Skepper, Y. Su et al., Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila, Genes & Development, vol.15, issue.22, pp.152967-2979, 2001.
DOI : 10.1101/gad.207801

D. Owen, P. Wigge, Y. Vallis, J. Moore, P. Evans et al., Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation, The EMBO Journal, vol.17, issue.18, pp.175273-5285, 1998.
DOI : 10.1093/emboj/17.18.5273

E. Lee, M. Marcucci, L. Daniell, M. Pypaert, O. Weisz et al., Amphiphysin 2 (Bin1) and T-Tubule Biogenesis in Muscle, Science, vol.297, issue.5584, pp.2971193-1196, 2002.
DOI : 10.1126/science.1071362

V. Tosch, H. Rohde, H. Tronchère, E. Zanoteli, N. Monroy et al., A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy, Human Molecular Genetics, vol.15, issue.21, pp.153098-3106, 2006.
DOI : 10.1093/hmg/ddl250

URL : https://hal.archives-ouvertes.fr/hal-00188169

B. Bergen, M. Carry, W. Wilson, M. Barden, and S. Ringel, Centronuclear myopathy: Extraocular- and limb-muscle findings in an adult, Muscle & Nerve, vol.123, issue.2, pp.165-171, 1980.
DOI : 10.1002/mus.880030210

T. Sasaki, K. Shikura, K. Sugai, I. Nonaka, and K. Kumagai, Muscle histochemistry in myotubular (centronuclear) myopathy, Brain and Development, vol.11, issue.1, pp.26-32, 1989.
DOI : 10.1016/S0387-7604(89)80005-1

M. Danon, C. Giometti, J. Manaligod, and C. Swisher, Sequential muscle biopsy changes in a case of congenital myopathy, Muscle & Nerve, vol.1, issue.5, pp.561-569, 1997.
DOI : 10.1002/(SICI)1097-4598(199705)20:5<561::AID-MUS4>3.0.CO;2-7

H. Goebel, H. Meinck, M. Reinecke, K. Schimrigk, and U. Mielke, Centronuclear Myopathy with Special Consideration of the Adult Form, European Neurology, vol.23, issue.6, pp.425-434, 1984.
DOI : 10.1159/000115725

P. Ven, . Van-der, P. Jap, R. Wetzels, H. Ter-laak et al., Postnatal centralization of muscle fibre nuclei in centronuclear myopathy, Neuromuscul Disord, vol.1, pp.211-220, 1991.

A. Fidzianska and H. Goebel, Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy, Journal of the Neurological Sciences, vol.124, issue.1, pp.83-88, 1994.
DOI : 10.1016/0022-510X(94)90015-9

F. Ven, . Van-der, P. Jap, H. Ter-laak, I. Nonaka et al., Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins, J Neurol Sci, vol.129, pp.199-213, 1995.

H. Sarnat, ABSTRACT:, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, vol.19, issue.02, pp.109-123, 1990.
DOI : 10.1055/s-2008-1052366

H. Sarnat, Vimentin and desmin in maturing skeletal muscle and developmental myopathies, Neurology, vol.42, issue.8, pp.1616-1624, 1992.
DOI : 10.1212/WNL.42.8.1616

C. Sewry, The role of immunocytochemistry in congenital myopathies, Neuromuscular Disorders, vol.8, issue.6, pp.394-400, 1998.
DOI : 10.1016/S0960-8966(98)00053-4

H. Jungbluth, M. Davis, C. Müller, S. Counsell, J. Allsop et al., Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations, Neuromuscular Disorders, vol.14, issue.12, pp.14785-790, 2004.
DOI : 10.1016/j.nmd.2004.08.006

I. Pénisson-besnier, V. Biancalana, P. Reynier, M. Cossée, and F. Dubas, Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: A clinical and genetic study, Neuromuscular Disorders, vol.17, issue.2, pp.180-185, 2007.
DOI : 10.1016/j.nmd.2006.10.008

J. Laporte, W. Kress, and J. Mandel, Diagnosis of X-linked myotubular myopathy by detection of myotubularin, Annals of Neurology, vol.15, issue.1, pp.42-46, 2001.
DOI : 10.1002/ana.1033

V. Dubowitz, Myotubular myopathy (centronuclear myopathy ) In Dubowitz V: Muscle biopsy ? A practical approach 2nd edition, Baillière Tindall, vol.1985, pp.443-459

C. Hawkes and M. Absolon, Myotubular myopathy associated with cataract and electrical myotonia., Journal of Neurology, Neurosurgery & Psychiatry, vol.38, issue.8, pp.761-764, 1975.
DOI : 10.1136/jnnp.38.8.761

N. Hulsmann, F. Gullotta, and H. Okur, Cytopathology of an unusual case of centronuclear myopathy, Journal of the Neurological Sciences, vol.50, issue.3, pp.311-333, 1981.
DOI : 10.1016/0022-510X(81)90146-5

C. Wallgren-pettersson, K. Bushby, U. Mellies, and A. Simonds, 117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders ??? Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4???6 April 2003, Naarden, The Netherlands, Neuromuscular Disorders, vol.14, issue.1, pp.56-69, 2003.
DOI : 10.1016/j.nmd.2003.09.003

R. Howard, C. Wiles, N. Hirsch, and G. Spencer, Respiratory involvement in primary muscle disorders: assessment and management, Q J Med, vol.86, pp.175-189, 1993.

C. Akiyama and I. Nonaka, A follow-up study of congenital non-progressive myopathies, Brain and Development, vol.18, issue.5, pp.404-408, 1996.
DOI : 10.1016/0387-7604(96)00042-3

U. Hagberg, J. Carroll, and M. Brooke, Endurance exercise training in a patient with central core disease, Neurology, vol.30, issue.11, pp.1242-1244, 1980.
DOI : 10.1212/WNL.30.11.1242

M. Denborough, P. Ebeling, J. King, and P. Zapf, Myopathy and malignant hyperpyrexia, Lancet, vol.1970, issue.17657, pp.1138-1140

M. Denborough, X. Dennett, and R. Anderson, Central-core disease and malignant hyperpyrexia., BMJ, vol.1, issue.5848, pp.272-273, 1973.
DOI : 10.1136/bmj.1.5848.272