{"id":1161,"date":"2018-06-29T06:00:04","date_gmt":"2018-06-29T04:00:04","guid":{"rendered":"https:\/\/www.neuromuscularbcn.org\/estudi-de-pacients-amb-charcot-marie-tooth-amb-mutacions-en-el-gen-morc2-a-espanya\/"},"modified":"2025-04-30T07:13:04","modified_gmt":"2025-04-30T05:13:04","slug":"estudi-de-pacients-amb-charcot-marie-tooth-amb-mutacions-en-el-gen-morc2-a-espanya","status":"publish","type":"post","link":"https:\/\/www.neuromuscularbcn.org\/ca\/estudi-de-pacients-amb-charcot-marie-tooth-amb-mutacions-en-el-gen-morc2-a-espanya\/","title":{"rendered":"Estudi de pacients amb Charcot-Marie-Tooth amb mutacions en el gen MORC2 a Espanya"},"content":{"rendered":"<p><img decoding=\"async\" class=\"alignnone size-full wp-image-2185\" src=\"https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2017\/06\/feature-network-approach.jpg\" alt=\"\" width=\"1200\" height=\"300\" \/><\/p>\n<p>La Dra. Teresa Sevilla i el Dr. Rafael Sivera de l&#8217;Hospital de la Fe, estan realitzant un estudi per recollir tots els pacients d&#8217;Espanya amb CMT causat per mutacions en el gen MORC2 i realitzar una descripci\u00f3 genotip-fenotip. Es creu que \u00e9s un subtipus de CMT que no \u00e9s tan estrany com sembla i val la pena ajuntar tots els pacients per veure si es pot caracteritzar millor el fenotip. Seria una sistem\u00e0tica semblant a la de l&#8217;estudi multic\u00e8ntric de GDAP1 que ja es va fer pr\u00e8viament <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28751717\" target=\"_blank\" rel=\"noopener\">(Distribution and genotype-Phenotype correlation of GDAP1 Mutations in Spain<\/a>), per\u00f2 en un subtipus menys freq\u00fcent i pitjor caracteritzat. S&#8217;utilitzaran les dades contingudes en el registre de Neuropatia Heredit\u00e0ries de CIBERER per a pacients amb aquesta mutaci\u00f3 i per a la recollida de dades de pacients que no estiguin introdu\u00efts. Com sempre s\u00f3n projectes col\u00b7laboratius on l\u2019autoria de la publicaci\u00f3 \u00e9s conjunta.<\/p>\n<p>Tots els que tingueu pacients amb mutacions en aquest gen us podeu posar en contacte amb Rafa Sivera (<a href=\"mailto:rafasivera@gmail.com\" target=\"_blank\" rel=\"noopener\">rafasivera@gmail.com<\/a>) o amb la Dra Sevilla (<a href=\"mailto:sevilla_ter@gva.es\" target=\"_blank\" rel=\"noopener\">sevilla_ter@gva.es<\/a>) o amb Sonia Seg\u00f2via (<a href=\"mailto:ssegovia@santpau.cat\" target=\"_blank\" rel=\"noopener\">ssegovia@santpau.cat<\/a>). Veurem si ja estan introdu\u00efdes les dades i la necessitat de complementar-los amb informaci\u00f3 extra.<\/p>\n<p>A part, si teniu algun pacient amb un fenotip suggestiu d&#8217;aquest gen, per\u00f2 que no hagueu pogut fer-li l&#8217;estudi gen\u00e8tic, ens podeu escriure per si el pogu\u00e9ssim fer a Val\u00e8ncia.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La Dra. Teresa Sevilla i el Dr. Rafael Sivera de l&#8217;Hospital de la Fe, estan realitzant un estudi per recollir tots els pacients d&#8217;Espanya amb CMT causat per mutacions en el gen MORC2 i realitzar una descripci\u00f3 genotip-fenotip. Es creu que \u00e9s un subtipus de CMT que no \u00e9s tan estrany com sembla i val la pena ajuntar tots els pacients per veure si es pot caracteritzar millor el fenotip. Seria una sistem\u00e0tica semblant  [&#8230;]<\/p>\n","protected":false},"author":1,"featured_media":1162,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[221,222],"tags":[97,101,27,68],"class_list":["post-1161","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticies-ca","category-registres-ca","tag-charcot-marie-tooth","tag-mutacio","tag-neuromuscular","tag-registre"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Estudi de pacients amb Charcot-Marie-Tooth amb mutacions en el gen MORC2 a Espanya - Neuromuscular BCN<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.neuromuscularbcn.org\/ca\/estudi-de-pacients-amb-charcot-marie-tooth-amb-mutacions-en-el-gen-morc2-a-espanya\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Estudi de pacients amb Charcot-Marie-Tooth amb mutacions en el gen MORC2 a Espanya - Neuromuscular BCN\" \/>\n<meta property=\"og:description\" content=\"La Dra. Teresa Sevilla i el Dr. Rafael Sivera de l&#8217;Hospital de la Fe, estan realitzant un estudi per recollir tots els pacients d&#8217;Espanya amb CMT causat per mutacions en el gen MORC2 i realitzar una descripci\u00f3 genotip-fenotip. Es creu que \u00e9s un subtipus de CMT que no \u00e9s tan estrany com sembla i val la pena ajuntar tots els pacients per veure si es pot caracteritzar millor el fenotip. 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Teresa Sevilla i el Dr. Rafael Sivera de l&#8217;Hospital de la Fe, estan realitzant un estudi per recollir tots els pacients d&#8217;Espanya amb CMT causat per mutacions en el gen MORC2 i realitzar una descripci\u00f3 genotip-fenotip. Es creu que \u00e9s un subtipus de CMT que no \u00e9s tan estrany com sembla i val la pena ajuntar tots els pacients per veure si es pot caracteritzar millor el fenotip. 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