{"id":1069,"date":"2013-09-10T16:43:10","date_gmt":"2013-09-10T14:43:10","guid":{"rendered":"https:\/\/www.aica3.org\/cms\/?p=1069"},"modified":"2022-01-06T10:04:32","modified_gmt":"2022-01-06T09:04:32","slug":"possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti","status":"publish","type":"post","link":"https:\/\/www.aica3.org\/cms\/en\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\/","title":{"rendered":"Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies"},"content":{"rendered":"<div title=\"Page 1\">\n<p>Summary: Fourteen years ago, the first disease-causing mu- tation in a form of autosomal recessive limb-girdle muscular dystrophy was reported. Since then the number of genes has been extended to at least 14 and the phenotypic spectrum has been broadened. The generation of mouse models helped to improve our understanding of the pathogenesis of the dis- ease and also served to study therapeutic possibilities. All autosomal recessive limb-girdle muscular dystrophies are rare diseases, which is one reason why there have been so very few controlled clinical trials. Other reasons are insufficient natural history data and the lack of standardized assessment criteria and validated outcome measures. Cur- rently, therapeutic possibilities are mainly restricted to symptomatic treatment and the treatment of disease compli- cations. On the other hand, new efforts in translational research and the development of molecular therapeutic approaches suggest that more promising clinical trials will be carried out in autosomal recessive limb-girdle muscular dystrophy in the next several years. Key Words: Limb-girdle muscular dystrophy, sarcoglycan, calpain 3, dysferlin, dystroglycan.<\/p>\n<p><a href=\"https:\/\/www.aica3.org\/cms\/wp-content\/uploads\/2013\/09\/Therapeutic-Possibilities-in-the-Autosomal-Recessive-Limb-Girdle-Muscular-Dystrophies.pdf\">Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Riassunto: Quattordici anni fa \u00e8 stata riportata la prima mutazione che causa la malattia in una forma di distrofia muscolare autosomica recessiva degli arti. Da allora il numero di geni \u00e8 stato esteso ad almeno 14 e lo spettro fenotipico \u00e8 stato ampliato. La generazione di modelli murini ha contribuito a migliorare la nostra comprensione [&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-1069","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>Possibilit\u00e0 terapeutiche nelle distrofie muscolari autosomiche recessive del cingolo degli arti - 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\/en\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Possibilit\u00e0 terapeutiche nelle distrofie muscolari autosomiche recessive del cingolo degli arti - AICa3 - ETS - Associazione Italiana Calpaina 3\" \/>\n<meta property=\"og:description\" content=\"Riassunto: Quattordici anni fa \u00e8 stata riportata la prima mutazione che causa la malattia in una forma di distrofia muscolare autosomica recessiva degli arti. Da allora il numero di geni \u00e8 stato esteso ad almeno 14 e lo spettro fenotipico \u00e8 stato ampliato. La generazione di modelli murini ha contribuito a migliorare la nostra comprensione [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.aica3.org\/cms\/en\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\/\" \/>\n<meta property=\"og:site_name\" content=\"AICa3 - ETS - Associazione Italiana Calpaina 3\" \/>\n<meta property=\"article:publisher\" content=\"http:\/\/www.facebook.com\/pages\/AICa3-Associazione-Italiana-Calpaina-3\/119599211561350\" \/>\n<meta property=\"article:published_time\" content=\"2013-09-10T14:43:10+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-01-06T09:04:32+00:00\" \/>\n<meta name=\"author\" content=\"admin\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"admin\" \/>\n\t<meta name=\"twitter:label2\" content=\"Estimated reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\\\/\"},\"author\":{\"name\":\"admin\",\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/#\\\/schema\\\/person\\\/8a5e19b3ab1d1aa2190043f3ddb89aa2\"},\"headline\":\"Possibilit\u00e0 terapeutiche nelle distrofie muscolari autosomiche recessive del cingolo degli arti\",\"datePublished\":\"2013-09-10T14:43:10+00:00\",\"dateModified\":\"2022-01-06T09:04:32+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\\\/\"},\"wordCount\":196,\"articleSection\":[\"Articoli scientifici\",\"Ricerca e Pubblicazioni\"],\"inLanguage\":\"en-GB\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\\\/\",\"url\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\\\/\",\"name\":\"Possibilit\u00e0 terapeutiche nelle distrofie muscolari autosomiche recessive del cingolo degli arti - 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La generazione di modelli murini ha contribuito a migliorare la nostra comprensione [&hellip;]","og_url":"https:\/\/www.aica3.org\/cms\/en\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\/","og_site_name":"AICa3 - ETS - Associazione Italiana Calpaina 3","article_publisher":"http:\/\/www.facebook.com\/pages\/AICa3-Associazione-Italiana-Calpaina-3\/119599211561350","article_published_time":"2013-09-10T14:43:10+00:00","article_modified_time":"2022-01-06T09:04:32+00:00","author":"admin","twitter_misc":{"Written by":"admin","Estimated reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.aica3.org\/cms\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\/#article","isPartOf":{"@id":"https:\/\/www.aica3.org\/cms\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\/"},"author":{"name":"admin","@id":"https:\/\/www.aica3.org\/cms\/#\/schema\/person\/8a5e19b3ab1d1aa2190043f3ddb89aa2"},"headline":"Possibilit\u00e0 terapeutiche nelle distrofie muscolari autosomiche recessive del cingolo degli arti","datePublished":"2013-09-10T14:43:10+00:00","dateModified":"2022-01-06T09:04:32+00:00","mainEntityOfPage":{"@id":"https:\/\/www.aica3.org\/cms\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\/"},"wordCount":196,"articleSection":["Articoli scientifici","Ricerca e Pubblicazioni"],"inLanguage":"en-GB"},{"@type":"WebPage","@id":"https:\/\/www.aica3.org\/cms\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\/","url":"https:\/\/www.aica3.org\/cms\/possibilita-terapeutiche-nelle-distrofie-muscolari-autosomiche-recessive-del-cingolo-degli-arti\/","name":"Possibilit\u00e0 terapeutiche nelle distrofie muscolari autosomiche recessive del cingolo degli arti - 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