{"id":22204,"date":"2018-03-09T09:12:17","date_gmt":"2018-03-09T09:12:17","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-cla%c2%adnico-genetico-de-las-distrofias-de-cinturas-tipo-2a\/"},"modified":"2018-03-09T09:12:17","modified_gmt":"2018-03-09T09:12:17","slug":"analisis-cla%c2%adnico-genetico-de-las-distrofias-de-cinturas-tipo-2a","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/pais-vasco-euskal-herriko-unibertsitatea\/analisis-cla%c2%adnico-genetico-de-las-distrofias-de-cinturas-tipo-2a\/","title":{"rendered":"An\u00e1lisis cl\u00ednico-gen\u00e9tico de las distrofias de cinturas tipo 2a"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Amets Saenz Pe\u00f1a <\/strong><\/h2>\n<p>Las distrofias de cinturas son un s\u00edndrome cl\u00ednica y gen\u00e9ticamente heterogeneo. se presentan los resultados de un estudio de correlaci\u00f3n cl\u00ednico-molecular de las distrofias de cinturas tipo 2a (lgmd2a) realizado en una muestra de 375 pacientes diagnosticados de distrofia de cinturas.  las mutaciones en el gen canp3 constituyen el 50% de la muestra. El 4% estimado de las muestras diagnosticadas como lgmd2a son distrofias facioescapulohumerales. el vapor predictivo positivo del resultado del western blot asociado al fenotipo caracter\u00edstico de lgmd2a es de aproximadamente un 90%.  las mutaciones se distribuyen a lo largo de todo el gen, salvo en 6 exones en los que no se han descrito mutaciones y una zona en la que se observan mayor concentraci\u00f3n de mutaciones (exones 10 y 11). La mutaci\u00f3n 2362ag-tcatct es la mutaci\u00f3n predominante hallada en el 36% de los cromosomas estudiados.  no se observa correlaci\u00f3n entre la severidad de la enfermedad valorada de acuerdo a la edad en la que se precisa una silla de ruedas y la edad de inicio de la enfermedad, no sirviendo esta \u00faltima como factor pron\u00f3stico de la evoluci\u00f3n de la enfermedad. Se ha observado que la severidad se correlaciona con el tipo de mutaci\u00f3n, bien sea missense o null dado que los pacientes con dos mutaciones null quedan en silla de ruedas antes y m\u00e1s frecuentemente que los que presentan alguna mutaci\u00f3n missense.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00e1lisis cl\u00ednico-gen\u00e9tico de las distrofias de cinturas tipo 2a<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00e1lisis cl\u00ednico-gen\u00e9tico de las distrofias de cinturas tipo 2a <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Amets Saenz Pe\u00f1a <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 22\/03\/2003<\/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> L\u00f3pez De Munain Arregui Adolfo<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Mart\u00ednez lage Jos\u00e9 manuel <\/li>\n<li>andoni Urtizberea jon (vocal)<\/li>\n<li>ferm\u00edn Garc\u00eda amigot (vocal)<\/li>\n<li>eduardo Guti\u00e9rrez rivas (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Amets Saenz Pe\u00f1a Las distrofias de cinturas son un s\u00edndrome cl\u00ednica y gen\u00e9ticamente heterogeneo. se presentan los [&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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