{"id":133076,"date":"1997-01-01T00:00:00","date_gmt":"1997-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/patologia-molecular-del-gen-de-la-distrofina-relacion-fenotipo-genotipo\/"},"modified":"1997-01-01T00:00:00","modified_gmt":"1997-01-01T00:00:00","slug":"patologia-molecular-del-gen-de-la-distrofina-relacion-fenotipo-genotipo","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/patologia-molecular-del-gen-de-la-distrofina-relacion-fenotipo-genotipo\/","title":{"rendered":"Patolog\u00eda molecular del gen de la distrofina: relacion fenotipo-genotipo."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Adriana Lasa Laborde <\/strong><\/h2>\n<p>La distrofia muscular de duchenne es la enfermedad hereditaria ligada al cromosoma x mas frecuente en el hombre, ya que afecta a 1 de cada 3500 varones que nacen.  esta caracterizada por una degeneracion progresiva de las fibras musculares esqueleticas que comienza a la edad de 2 a 4 a\u00f1os y que conlleva a una invalidez fisica y a una muerte temprana. La distrofia muscular de becker (dmb) se presenta como una forma mas tardia que evoluciona mas lentamente, y que se hace invalidante a lo largo de la vida adulta. El gen responsable de ambos tipos de distrofias musculares se situa en el brazo corto del cromosoma x:xp21. Es hasta la actualidad el mayor gen descrito, alrededor de 79 exones repartidos en 2300 kb, que codifica un arnm de 14 kb, el cual se traduce en una proteina de 427 kdalton (3685 aa) llamada distrofina. La patolog\u00eda molecular del adn del 60% de los pacientes afectados consiste en una delecion de uno o varios exones del gen de la distrofina. Las duplicaciones en dicho gen representan una patolog\u00eda molecular minoritaria (5%) frente al elevado numero de deleciones. El resto de los afectados que no presentan una delecion o duplicacion, lo son consecuencia de mutaciones puntuales.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Patolog\u00eda molecular del gen de la distrofina: relacion fenotipo-genotipo.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Patolog\u00eda molecular del gen de la distrofina: relacion fenotipo-genotipo. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Adriana Lasa Laborde <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1997<\/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>Pia Gallano Petit<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Daniel Grinberg Vaisman <\/li>\n<li>Montserrat Baiget Bast\u00fas (vocal)<\/li>\n<li>Francisco Palau Martinez (vocal)<\/li>\n<li> Lopez De Munain Arregui Adolfo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Adriana Lasa Laborde La distrofia muscular de duchenne es la enfermedad hereditaria ligada al cromosoma x mas [&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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