{"id":1814,"date":"1994-01-01T00:00:00","date_gmt":"1994-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/1994\/01\/01\/estudio-molecular-en-familias-espanolas-del-gen-de-la-distrofia-muscular-de-duchenne-becker\/"},"modified":"1994-01-01T00:00:00","modified_gmt":"1994-01-01T00:00:00","slug":"estudio-molecular-en-familias-espanolas-del-gen-de-la-distrofia-muscular-de-duchenne-becker","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-molecular-en-familias-espanolas-del-gen-de-la-distrofia-muscular-de-duchenne-becker\/","title":{"rendered":"Estudio molecular en familias espa\u00f1olas del gen de la distrofia muscular de duchenne\/becker."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Manuela Villamar Lopez <\/strong><\/h2>\n<p>La distrofia muscular de duchenne\/becker es una enfermedad muscular. El tipo de herencia es recesiva ligada al cromosoma x con penetrancia completa. El estudio molecular del gen en familias espa\u00f1olas nos ha permitido detectar mutaciones (deleciones y duplicaciones) en el 44% de los pacientes. Las mutaciones variables en tama\u00f1o se distribuyen en dos zonas preferenciales del gen. La aplicacion de las tecnicas moleculares ha permitido modificar el riesgo ambiguo en mas del 90% de las mujeres analizadas. Se confirma que el analisis de la isoenzima creatin fosfoquinasa sigue siendo muy util como complemento en el diagnostico de portadoras. Se ha tabulado por primera vez para la poblacion espa\u00f1ola la probabilidad de riesgo de ser portadora para cada intervalo de valores enzimaticos. La alta eficacia y fiabilidad de la tecnica nos permitio realizar diagnosticos prenatales seguros a las mujeres que lo solicitaron. Se ha establecido un protocolo de estudio familiar de la enfermedad en el que se ha mejorado la eficacia y seguridad del diagnostico y se ha reducido el tiempo invertido en el estudio.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio molecular en familias espa\u00f1olas del gen de la distrofia muscular de duchenne\/becker.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio molecular en familias espa\u00f1olas del gen de la distrofia muscular de duchenne\/becker. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Manuela Villamar Lopez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1994<\/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>Javier Ben\u00edtez Ortiz<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  Ramon Lacadena  Calero <\/li>\n<li>Jaime Campos Castello (vocal)<\/li>\n<li>Felipe Moreno Herrero (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Manuela Villamar Lopez La distrofia muscular de duchenne\/becker es una enfermedad muscular. El tipo de herencia es [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[35,9,962,1820,1686],"tags":[6060,7790,7788,7789,7787],"class_list":["post-1814","post","type-post","status-publish","format-standard","hentry","category-ciencias-de-la-vida","category-ciencias-medicas","category-genetica","category-genetica-de-poblaciones","category-medicina-preventiva","tag-felipe-moreno-herrero","tag-jaime-campos-castello","tag-javier-benitez-ortiz","tag-juan-ramon-lacadena-calero","tag-manuela-villamar-lopez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/1814","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=1814"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/1814\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=1814"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=1814"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=1814"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}