{"id":70090,"date":"2018-03-09T23:14:37","date_gmt":"2018-03-09T23:14:37","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-fenotipica-y-genetica-de-una-serie-de-pacientes-con-distrofia-muscular-congenita\/"},"modified":"2018-03-09T23:14:37","modified_gmt":"2018-03-09T23:14:37","slug":"caracterizacion-fenotipica-y-genetica-de-una-serie-de-pacientes-con-distrofia-muscular-congenita","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/pediatria\/caracterizacion-fenotipica-y-genetica-de-una-serie-de-pacientes-con-distrofia-muscular-congenita\/","title":{"rendered":"Caracterizacion fenotipica y genetica de una serie de pacientes con distrofia muscular congenita"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Susana Quijano Roy <\/strong><\/h2>\n<p>El objetivo del trabajo de tesis es profundizar en la caracterizacion de los fenotipos clinicos de las distrofias musculares congenitas, la busqueda de nuevas formas clinicas y el avance en el conocimienot clinico y evolutivo de estas enfermedades.  el estudio ha permitido conocer los aspectos clinicos (neurologicos, respoiratorios, cardiologicos), morfologicos, electromiograficos y evolutivos de las formas de distrofias musculares congenitas  con deficit primario de merosina, con deficit parcial de la misma  y sin deficit de merosina y sus correspondencias geneticas. Tambien ha permitido confirmar el origen genetico de dos nuevas formas, una con debilidad progresiva, hipertrofia de gemelos y macroglosia, descubriendose una mutacion del gen fkrp  y otra  con un sindrome de espina rigida y mutacion del gen senp1.  los estudios que originan este trabajo han sido presentados en reuniones de expertos europeos en  enfermedades musculares y publicados en las principales revistas neurologicas: 1.- Neuromuscular disord 2002,12;466-75.  2- nat genet 2001;29:17-18. 3- am j hum genet 2002;71;739-49. 4-neurogenetics 2004;5:27-34. 5- ann neurol 2003;53:537-42. 6-neuromuscular disord 2003; 13:579-88. 7-neuromuscular disord 2002;12:889-896. 8- muscle and nerve 2004;29:292-9<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizacion fenotipica y genetica de una serie de pacientes con distrofia muscular congenita<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizacion fenotipica y genetica de una serie de pacientes con distrofia muscular congenita <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Susana Quijano Roy <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/09\/2004<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Ignacio Pascual Castroviejo<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: fernando Tome escribano <\/li>\n<li>carmen Navarro (vocal)<\/li>\n<li>isabel Illa sendra (vocal)<\/li>\n<li>Ana Cabello (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Susana Quijano Roy El objetivo del trabajo de tesis es profundizar en la caracterizacion de los fenotipos [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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