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SPECIFIC DISORDERS 53 Spiro AJ, Shy GM, et al Myotubular myopathy Persistence of fetal muscle in an adolescent boy Arch Neurol 1966;14(1):1 14 54 Fischer D, Herasse M, et al Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy Brain 2006 55 Jeannet PY, Bassez G, et al Clinical and histologic ndings in autosomal centronuclear myopathy Neurology 2004;62(9):1484 1490 56 McEntagart M, Parsons G, et al Genotype phenotype correlations in X-linked myotubular myopathy Neuromuscul Disord 2002;12(10):939 946 57 Wallgren-Pettersson C, Clarke A, et al The myotubular myopathies: Differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies J Med Genet 1995;32(9):673 679 58 Hammans SR, Robinson DO, et al A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy Neuromuscul Disord 2000;10(2):133 137 59 Jungbluth H, Sewry CA, et al Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation Neuromuscul Disord 2003;13(1): 55 59 60 Kristiansen M, Knudsen GP, et al X-inactivation patterns in carriers of X-linked myotubular myopathy Neuromuscul Disord 2003;13(6):468 471 61 Felice KJ, Grunnet ML Autosomal dominant centronuclear myopathy: Report of a new family with clinical features simulating facioscapulohumeral syndrome Muscle Nerve 1997;20(9):1194 1196 62 Laporte J, Biancalana V, et al MTM1 mutations in X-linked myotubular myopathy Hum Mutat 2000;15(5):393 409 63 Laporte J, Guiraud-Chaumeil C, et al Mutations in the MTM1 gene implicated in X-linked myotubular myopathy ENMC International Consortium on Myotubular Myopathy European Neuro-Muscular Center Hum Mol Genet 1997;6(9):1505 1511 64 Cui X, I De Vivo, et al Association of SET domain and myotubularin-related proteins modulates growth control Nat Genet 1998;18(4):331 337 65 Bitoun M, Maugenre S, et al Mutations in dynamin 2 cause dominant centronuclear myopathy Nat Genet 2005;37(11):1207 1209 66 Zuchner S, Noureddine M, et al Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot Marie Tooth disease Nat Genet 2005;37(3):289 294 67 Cavanagh NP, Lake BD, et al Congenital bre type disproportion myopathy A histological diagnosis with an uncertain clinical outlook Arch Dis Child 1979;54(10):735 743 68 Danon MJ, Giometti CS, et al Sequential muscle biopsy changes in a case of congenital myopathy Muscle Nerve 1997;20(5):561 569 69 Laing NG, Clarke NF, et al Actin mutations are one cause of congenital bre type disproportion Ann Neurol 2004;56(5):689 694 70 Jerusalem F, Engel AG, et al Sarcotubular myopathy A newly recognized, benign, congenital, familial muscle disease Neurology 1973;23(9):897 906.

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34 Wallgren-Pettersson C, Laing NG 138th ENMC Workshop: Nemaline myopathy, 20 22 May 2005, Naarden, the Netherlands Neuromuscul Disord 2006;16(1):54 60 35 Barohn RJ, Jackson CE, et al Neonatal nemaline myopathy with abundant intranuclear rods Neuromuscul Disord 1994;4(5 6):513 520 36 Norton P, Ellison P, et al Nemaline myopathy in the neonate Neurology 1983;33(3):351 356 37 Rifai Z, Kazee AM, et al Intranuclear rods in severe congenital nemaline myopathy Neurology 1993;43(11):2372 2377 38 Wallgren-Pettersson C, Jasani B, et al Alpha-actinin in nemaline bodies in congenital nemaline myopathy: Immunological con rmation by light and electron microscopy Neuromuscul Disord 1995;5(2):93 104 39 Durling HJ, Reilich P, et al De novo missense mutation in a constitutively expressed exon of the slow alphatropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy Neuromuscul Disord 2002;12(10):947 951 40 Wattanasirichaigoon D, Swoboda KJ, et al Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy Neurology 2002;59(4):613 617 41 Donner K, Ollikainen M, et al Mutations in the betatropomyosin (TPM2) gene a rare cause of nemaline myopathy Neuromuscul Disord 2002;12(2):151 158 42 Gurgel-Giannetti J, Reed U, et al Nebulin expression in patients with nemaline myopathy Neuromuscul Disord 2001;11(2):154 162 43 Pelin K, Donner K, et al Nebulin mutations in autosomal recessive nemaline myopathy: An update Neuromuscul Disord 2002;12(7 8):680 686 44 Pelin K, Hilpela P, et al Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy Proc Natl Acad Sci USA 1999;96(5):2305 2310 46 Jin JP, Brotto MA, et al Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy J Biol Chem 2003;278(28):26159 26165 47 Marston S, Mirza M, et al Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy Neuromuscul Disord 2004;14(2):167 174 48 Nowak KJ, Wattanasirichaigoon D, et al Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy Nat Genet 1999;23(2):208 212 49 Wallgren-Pettersson C, Pelin K, et al Genotypephenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin Neuromuscul Disord 2004;14(8 9):461 470 50 Chahin N, Selcen D, et al Sporadic late onset nemaline myopathy Neurology 2005;65(8):1158 1164 51 Eymard B, Brouet JC, et al Late-onset rod myopathy associated with monoclonal gammopathy Neuromuscul Disord 1993;3(5 6):557 560 52 Keller CE, Hays AP, et al Adult-onset nemaline myopathy and monoclonal gammopathy Arch Neurol 2006;63(1):132 134.

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