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Developmental myosins: expression patterns and functional significance af Stefano Schiaffino, A. Rossi, Vika Smerdu, Leslie A. Leinwand, Carlo Reggiani

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Atuação da fisioterapia aquática funcional no deslocamento na postura sentada na amioplasia congênita: relato de caso af Renata D ́Agostini Nicollini-Panisson, Ricardo Cristian Hengles, Deborah Cristina Garcia de Mattos

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Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis af Dan Mejlachowicz, Flora Nolent, Jérôme Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Marta Gut, Damien Sternberg, Annie Laquerrière, Judith Melki

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P09.22: Congenital arthrogryposis: report of recurrency af R. S. Oliveira, Alanna M.P.S. Bezerra, C.L. Drummond, L. R. Zitron, Eduardo Cordioli

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Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita af Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, Ana M. Meireles, Kevin J. Paavola, Dominique Gaillard, Elisabeth Alanio, Michael E. Buckland, Susan Arbuckle, Michael Krivanek, Jérôme Maluenda, S. Pannell, Rebecca Gooding, Royston Ong, Richard J. N. Allcock, Ellaine Dóris Fernandes Carvalho, Maria D.F. Carvalho, Fernando Kok, William S. Talbot, Judith Melki, Nigel G. Laing

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Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function. af Sietske A. Riemersma, Angela Vincent, David Beeson, Claire Newland, S Hawke, B Garabedian, B. Eymard, John Newsom–Davis

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A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. af P Fleury, G. Hageman

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Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes af Sandy S. Sung, Anna-Marie E. Brassington, Kathryn Grannatt, Ann Rutherford, Frank G. Whitby, Patrycja A. Krakowiak, Lynn B. Jorde, John C. Carey, Mike Bamshad

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Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the <i>VPS33B</i> gene af Maria Teresa Vieira Sanseverino, Carolina Fischinger Moura de Souza, Paul Gissen, Anne Orgler Sordi, José Antônio de Azevedo Magalhães, Lavínia Schüler‐Faccini

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A mutation in <i>TGFB</i><i>3</i> associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–d... af Hugh Young Rienhoff, Chang‐Yeol Yeo, Rachel Morissette, Irina Khrebtukova, Jonathan S. Melnick, Shujun Luo, Nan Leng, Y.O. Kim, Gary P. Schroth, John Westwick, Hannes Vogel, Nazli B. McDonnell, Judith G. Hall, Malcolm Whitman

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 af Margaret J. McMillin, Anita Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh R. Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott H. Sherr, Miranda Splitt, Helen Stewart, Constance T. R. M. Stumpel, Şehime Gülsün Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay af Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Margaret N. Berry, Maureen Bocian, Nicola Foulds, Maria Luisa Giovannucci Uzielli, Chad R. Haldeman‐Englert, Raoul C.M. Hennekam, Paige Kaplan, Antonie D. Kline, Catherine L. Mercer, Małgorzata J.M. Nowaczyk, Jolien S. Klein Wassink‐Ruiter, Elizabeth W. McPherson, Regina A. Moreno, Angela E. Scheuerle, Vandana Shashi, Cathy A. Stevens, John C. Carey, Arnaud Monteil, Philippe Lory, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Gonçalo R. Abecasis, Peter Anderson, Elizabeth Blue, Marcus Annable, Brian L. Browning, Kati J. Buckingham, Christina Chen, Jennifer Chin, Jessica X. Chong, Gregory M. Cooper, Colleen Davis, Christopher Frazar, Tanya M. Harrell, Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic, Colby T. Marvin, Margaret J. McMillin, Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, M. Lázaro Pérez, Sam W. Phillips, Jessica Pijoan, Christa Poel, Frédéric Reinier, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Tristan Shaffer, Cindy Shephard, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Jeffrey Staples, Holly K. Tabor, Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Yi Qian

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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome af Paul Gissen, Colin A. Johnson, Neil V. Morgan, Janneke M. Stapelbroek, Tim Forshew, Wendy N. Cooper, Patrick McKiernan, Leo W. J. Klomp, Andrew A. M. Morris, J. E. Wraith, Patricia McClean, Sally Ann Lynch, Richard J. Thompson, Bernard Lo, Oliver Quarrell, Maja Di Rocco, Richard C. Trembath, Hanna Mandel, Sami Wali, Fiona E. Karet, A. S. Knisely, Roderick H.J. Houwen, Déirdre Kelly, Eamonn R. Maher

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Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization af Andrew R. Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Yoshiyuki Wakabayashi, Christopher K Bruce, Guanmei Luo, Fatimah Rahman, Figen Gürakan, Eda Ütine, Tanju Özkan, Jonas Denecke, Jurica Vuković, Maja Di Rocco, Hanna Mandel, Hakan Cangül, Randolph P. Matthews, Steven G. Thomas, Joshua Z. Rappoport, Irwin M. Arias, Hartwig Wolburg, A. S. Knisely, Déirdre Kelly, Ferenc Müller, Eamonn R. Maher, Paul Gissen

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Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1 af Barak Markus, Ginat Narkis, Daniella Landau, Ruth Birk, Idan Cohen, Ohad S. Birk

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A Gain-of-Function Mutation in<i>NALCN</i>in a Child with Intellectual Disability, Ataxia, and Arthrogryposis af Kyota Aoyagi, Elsa Rossignol, Fadi F. Hamdan, Ben Mulcahy, Lin Xie, Shinya Nagamatsu, Guy A. Rouleau, Mei Zhen, Jacques L. Michaud

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Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D af Margaret J. McMillin, Jennifer E. Below, Kathryn M. Shively, Anita Beck, Heidi Gildersleeve, Jason Pinner, Gloria R. Gogola, Jacqueline T. Hecht, Dorothy K. Grange, David J. Harris, Dawn Earl, Sujatha Jagadeesh, Sarju Mehta, Stephen P. Robertson, James M. Swanson, Elaine M. Faustman, Heather C Mefford, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

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Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity af A. Fassier, Philippe Wicart, Jean Dubousset, R. Seringe

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O tratamento do pé artrogripótico af Simone Dota Simis, Patrícia Moraes Barros Fucs

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A case of amyoplasia congenita, with pathological report af D. S. Price

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