{"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\/en\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/","title":{"rendered":"Limb-girdle muscular dystrophy type 2A in Brazilian children"},"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>Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in the CAPN3 gene. Aim: To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally MRI findings in two of them. Method: We retrospectively evaluated the medical records of 6 patients with mutation on CAPN3 gene. Results: All patients were female (three to 12 years old). The mean age of disease onset was 9 years. All showed progressive weakness with predominance in the lower limbs. Other findings were scapular wing, joint contractures and calf hypertrophy. One female had a more severe phenotype than her dizygotic twin sister which was confirmed by muscle MRI. Muscle biopsies showed a dystrophic pattern in all patients. Conclusions: In this cohort of children with LGMD2A, clinical aspects were similar to adults with the same disorder.<\/p>\n<p>ENGLISH &#8211; <a href=\"https:\/\/www.aica3.org\/cms\/wp-content\/uploads\/2016\/04\/LGMD2Abrasilian2015.pdf\" target=\"_blank\" rel=\"noopener\">Click to download the full version of the article<\/a><\/p>","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\/en\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\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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Obiettivo: Presentare i risultati clinici e istologici in sei bambini con una diagnosi molecolare di LGMD2A e inoltre [&hellip;]","og_url":"https:\/\/www.aica3.org\/cms\/en\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/","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":"2016-04-28T11:22:16+00:00","article_modified_time":"2021-12-27T10:57:46+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\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/#article","isPartOf":{"@id":"https:\/\/www.aica3.org\/cms\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/"},"author":{"name":"admin","@id":"https:\/\/www.aica3.org\/cms\/#\/schema\/person\/8a5e19b3ab1d1aa2190043f3ddb89aa2"},"headline":"Distrofia muscolare di tipo 2A nei bambini brasiliani","datePublished":"2016-04-28T11:22:16+00:00","dateModified":"2021-12-27T10:57:46+00:00","mainEntityOfPage":{"@id":"https:\/\/www.aica3.org\/cms\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/"},"wordCount":197,"articleSection":["Articoli scientifici","Ricerca e Pubblicazioni"],"inLanguage":"en-GB"},{"@type":"WebPage","@id":"https:\/\/www.aica3.org\/cms\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/","url":"https:\/\/www.aica3.org\/cms\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/","name":"Distrofia muscolare di tipo 2A nei bambini brasiliani - AICa3 - ETS - Associazione Italiana Calpaina 3","isPartOf":{"@id":"https:\/\/www.aica3.org\/cms\/#website"},"datePublished":"2016-04-28T11:22:16+00:00","dateModified":"2021-12-27T10:57:46+00:00","author":{"@id":"https:\/\/www.aica3.org\/cms\/#\/schema\/person\/8a5e19b3ab1d1aa2190043f3ddb89aa2"},"breadcrumb":{"@id":"https:\/\/www.aica3.org\/cms\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/#breadcrumb"},"inLanguage":"en-GB","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.aica3.org\/cms\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/www.aica3.org\/cms\/limb-girdle-muscular-dystrophy-type-2a-in-brazilian-children\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/www.aica3.org\/cms\/"},{"@type":"ListItem","position":2,"name":"Distrofia muscolare di tipo 2A nei bambini brasiliani"}]},{"@type":"WebSite","@id":"https:\/\/www.aica3.org\/cms\/#website","url":"https:\/\/www.aica3.org\/cms\/","name":"AICa3 - ETS - Associazione Italiana Calpaina 3","description":"Sito ufficiale dell\u2019Associazione Italiana Calpaina 3 per la lotta alla Distrofia Muscolare dei cingoli da deficit di Calpaina 3.","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.aica3.org\/cms\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-GB"},{"@type":"Person","@id":"https:\/\/www.aica3.org\/cms\/#\/schema\/person\/8a5e19b3ab1d1aa2190043f3ddb89aa2","name":"admin","image":{"@type":"ImageObject","inLanguage":"en-GB","@id":"https:\/\/secure.gravatar.com\/avatar\/4b904785971eb1f4a705b7613434a976e92728da57cacd525748a7d680e4cccc?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/4b904785971eb1f4a705b7613434a976e92728da57cacd525748a7d680e4cccc?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/4b904785971eb1f4a705b7613434a976e92728da57cacd525748a7d680e4cccc?s=96&d=mm&r=g","caption":"admin"},"url":"https:\/\/www.aica3.org\/cms\/en\/author\/admin\/"}]}},"_links":{"self":[{"href":"https:\/\/www.aica3.org\/cms\/en\/wp-json\/wp\/v2\/posts\/1655","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.aica3.org\/cms\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.aica3.org\/cms\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.aica3.org\/cms\/en\/wp-json\/wp\/v2\/users\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/www.aica3.org\/cms\/en\/wp-json\/wp\/v2\/comments?post=1655"}],"version-history":[{"count":0,"href":"https:\/\/www.aica3.org\/cms\/en\/wp-json\/wp\/v2\/posts\/1655\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.aica3.org\/cms\/en\/wp-json\/wp\/v2\/media?parent=1655"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.aica3.org\/cms\/en\/wp-json\/wp\/v2\/categories?post=1655"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.aica3.org\/cms\/en\/wp-json\/wp\/v2\/tags?post=1655"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}