{"id":1655,"date":"2016-04-28T13:22:16","date_gmt":"2016-04-28T11:22:16","guid":{"rendered":"https:\/\/www.aica3.org\/cms\/?p=1655"},"modified":"2021-12-27T11:57:46","modified_gmt":"2021-12-27T10:57:46","slug":"limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children","status":"publish","type":"post","link":"https:\/\/www.aica3.org\/cms\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/","title":{"rendered":"Distrofia muscolare di tipo 2A nei bambini brasiliani"},"content":{"rendered":"<p><em><br \/>\nMarco Ant\u00f4nio Veloso de Albuquerque, Os\u00f3rio Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed<br \/>\n<\/em><\/p>\n<p>La calpainopatia \u00e8 una distrofia muscolare autosomica recessiva della cintura degli arti (LGMD2A) causata da mutazioni nel gene CAPN3. Obiettivo: Presentare i risultati clinici e istologici in sei bambini con una diagnosi molecolare di LGMD2A e inoltre i risultati della risonanza magnetica in due di loro. Metodo: Abbiamo valutato retrospettivamente le cartelle cliniche di 6 pazienti con mutazione sul gene CAPN3. Risultati: Tutti i pazienti erano di sesso femminile (da tre a 12 anni). La media dell&#8217;et\u00e0 di insorgenza della malattia era di 9 anni. Tutti hanno mostrato debolezza progressiva con predominanza negli arti inferiori. Altri risultati erano l&#8217;ala scapolare, le contratture articolari e l&#8217;ipertrofia del polpaccio. Una femmina aveva un fenotipo pi\u00f9 grave della sua sorella gemella dizigote che \u00e8 stato confermato dalla risonanza magnetica muscolare. Le biopsie muscolari hanno mostrato un modello distrofico in tutti i pazienti. Conclusioni: In questa coorte di bambini con LGMD2A, gli aspetti clinici erano simili agli adulti con lo stesso disturbo.<\/p>\n<p>ENGLISH &#8211; <a href=\"https:\/\/www.aica3.org\/cms\/wp-content\/uploads\/2016\/04\/LGMD2Abrasilian2015.pdf\" target=\"_blank\" rel=\"noopener\">Clicca per scaricare la versione integrale dell&#8217;articolo<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Marco Ant\u00f4nio Veloso de Albuquerque, Os\u00f3rio Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed La calpainopatia \u00e8 una distrofia muscolare autosomica recessiva della cintura degli arti (LGMD2A) causata da mutazioni nel gene CAPN3. Obiettivo: Presentare i risultati clinici e istologici in sei bambini con una diagnosi molecolare di LGMD2A e inoltre [&hellip;]<\/p>\n","protected":false},"author":4,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[34,33],"tags":[],"class_list":["post-1655","post","type-post","status-publish","format-standard","hentry","category-articoli-scientifici","category-ricerca-e-pubblicazioni"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Distrofia muscolare di tipo 2A nei bambini brasiliani - AICa3 - ETS - Associazione Italiana Calpaina 3<\/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.aica3.org\/cms\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Distrofia muscolare di tipo 2A nei bambini brasiliani - AICa3 - ETS - Associazione Italiana Calpaina 3\" \/>\n<meta property=\"og:description\" content=\"Marco Ant\u00f4nio Veloso de Albuquerque, Os\u00f3rio Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed La calpainopatia \u00e8 una distrofia muscolare autosomica recessiva della cintura degli arti (LGMD2A) causata da mutazioni nel gene CAPN3. 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