Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
Johann Böhm; Valérie Biancalana; Elizabeth T. DeChene; Marc Bitoun; Christopher R. Pierson; Elise Schaefer; Hatice Karasoy; Melissa A. Dempsey; Fabrice Klein; Nicolas Dondaine; Christine Kretz; Nicolas Haumesser; Claire Poirson; Anne Toussaint; Rebecca S. Greenleaf; Melissa A. Barger; Lane J. Mahoney; Peter B. Kang; Edmar Zanoteli; John Vissing; Nanna Witting; Andoni Echaniz-Laguna; Carina Wallgren-Pettersson; James Dowling; Luciano Merlini; Anders Oldfors; Lilian Bomme Ousager; Judith Melki; Amanda Krause; Christina Jern; Acary S. B. Oliveira; Florence Petit; Aurélia Jacquette; Annabelle Chaussenot; David Mowat; Bruno Leheup; Michele Cristofano; Juan José Poza Aldea; Fabrice Michel; Alain Furby; Jose E. Barcena Llona; Rudy Van Coster; Enrico Bertini; Jon Andoni Urtizberea; Valérie Drouin-Garraud; Christophe Béroud; Bernard Prudhon; Melanie Bedford; Katherine Mathews; Lori A. H. Erby; Stephen A. Smith; Jennifer Roggenbuck; Carol A. Crowe; Allison Brennan Spitale; Sheila C. Johal; Anthony A. Amato; Laurie A. Demmer; Jessica Jonas; Basil T. Darras; Thomas D. Bird; Mercy Laurino; Selman I. Welt; Cynthia Trotter; Pascale Guicheney; Soma Das; Jean-Louis Mandel; Alan H. Beggs; Jocelyn Laporte
- 作者Johann Böhm; Valérie Biancalana; Elizabeth T. DeChene; Marc Bitoun; Christopher R. Pierson; Elise Schaefer; Hatice Karasoy; Melissa A. Dempsey; Fabrice Klein; Nicolas Dondaine; Christine Kretz; Nicolas Haumesser; Claire Poirson; Anne Toussaint; Rebecca S. Greenleaf; Melissa A. Barger; Lane J. Mahoney; Peter B. Kang; Edmar Zanoteli; John Vissing; Nanna Witting; Andoni Echaniz-Laguna; Carina Wallgren-Pettersson; James Dowling; Luciano Merlini; Anders Oldfors; Lilian Bomme Ousager; Judith Melki; Amanda Krause; Christina Jern; Acary S. B. Oliveira; Florence Petit; Aurélia Jacquette; Annabelle Chaussenot; David Mowat; Bruno Leheup; Michele Cristofano; Juan José Poza Aldea; Fabrice Michel; Alain Furby; Jose E. Barcena Llona; Rudy Van Coster; Enrico Bertini; Jon Andoni Urtizberea; Valérie Drouin-Garraud; Christophe Béroud; Bernard Prudhon; Melanie Bedford; Katherine Mathews; Lori A. H. Erby; Stephen A. Smith; Jennifer Roggenbuck; Carol A. Crowe; Allison Brennan Spitale; Sheila C. Johal; Anthony A. Amato; Laurie A. Demmer; Jessica Jonas; Basil T. Darras; Thomas D. Bird; Mercy Laurino; Selman I. Welt; Cynthia Trotter; Pascale Guicheney; Soma Das; Jean-Louis Mandel; Alan H. Beggs; Jocelyn Laporte
- 卷第33卷
- 期第6期
- 印刷ISSN1059-7794
- 电子ISSN1098-1004
- 文件大小614.76KB
- 发表时间2012
- DOI10.1002/humu.22067
- 页码949-959