@article {Winckler1133作者= {Pablo沥青Winckler和硕士Andr {} \ ' e da Silva和Ant {\ ^ o} nio r . Coimbra-Neto Elmano卡瓦略和米菲汀Chwal和爱德华多•托巴斯卡瓦尔康蒂和Cl {\ '} udia F.R. Sobreira卡洛·d·马伦和Macela Marcela c . Machado-Costa Alzira Alzira A.S.卡瓦略和Raimunda H.F. Feio和克里昂{\ \我}sio l·罗德里格斯和马库斯V.M. Gon {\ c c}阿尔维斯和Renata b 10 {\ ' o} Mendon {\ c c}力拓和罗德里戈·h·a和安娜白色短衣和J {\ ' u} lia F.O.掌和辛西娅·科斯塔e席尔瓦和阿基诺卡米拉·德·克鲁斯和玛乔丽。本{\ '}和丹尼尔碰头Betancur和Antonette s . El Husny de Souza伊莎贝尔灯光和雷吉娜C.B. Duarte Umbertina c·里德和M{\ '一个}rcia L.F. Chaves和Edmar Zanoteli和Marcondes c·弗兰{\ c c}, Jr和乔纳斯炒},title = {Clinicogenetic教训370常染色体隐性肢带肌萎缩症患者(1133)},体积={94}={15}补充数量,elocation-id ={1133} ={2020},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:描述流行病学、临床和分子数据的患者常染色体隐性LGMD2 / LGMD-R在巴西。首页背景:肢带肌营养不良(LGMD)代表一个异质群体遗传疾病的主要特点是近端肌肉无力独立后开始移动。LGMD与常染色体隐形遗传(LGMD2 / LGMD-R)是最常见的这些障碍,但相对频率LGMD2 / LGMD-R子类型因地区而异。缺乏对LGMD在拉丁美洲流行病学数据,只有一些单中心研究报告sarcoglycanopathies在巴西最常见的子类型。设计/方法:13岁一个多中心的历史队列研究中心代表所有地理区域来自巴西、索引情况和影响的亲戚{\ textquoteright}数据连续家庭遗传或病理诊断LGMD2 / LGMD-R综述了从2017年7月到2018年8月。生存曲线的主要障碍LGMD2A / LGMD-R1-calpain3-related LGMD2B / LGMD-R2-dysferlin-related和sarcoglycanopathies建成和进展性和基因型估计。结果:在370例患者(305个家庭)LGMD2 / LGMD-R最常见亚型LGMD2A / LGMD-R1-calpain3-related和LGMD2B / LGMD-R2-dysferlin-related,每个代表约30 \ %的家庭。Sarcoglycanopathies是最常见的儿童子类型,代表21 \ %的家庭。百分之五的家庭有LGMD2G / LGMD-R7-telethonin-related,一件子类型上。雌性LGMD2B / LGMD-R2-dysferlin-related有那么严重发展障碍患者比男性和LGMD2A / LGMD-R1-calpain3-related删除变异此前疾病发病和较为严重的发展障碍患者比没有删除变体。结论:我们提供了最重要的流行病学数据LGMD2 / LGMD-R在巴西,可能有助于鉴别诊断,更好的病人护理和指导未来合作的临床试验和自然历史研究领域。披露:Winckler博士没有披露。席尔瓦博士没有披露。罗德里格斯博士Coimbra的否决权没有披露。 Dr. Carvalho has nothing to disclose. Dr. Chwal has nothing to disclose. Dr. Uchoa Cavalcanti has nothing to disclose. Dr. Sobreira has nothing to disclose. Dr. Marrone has nothing to disclose. Dr. Machado-Costa has nothing to disclose. Dr. Carvalho has nothing to disclose. Dr. H.F. Feio has nothing to disclose. Dr. Rodrigues has nothing to disclose. Dr. Goncalves has nothing to disclose. Dr. Tenorio has nothing to disclose. Dr. H. Mendonca has nothing to disclose. Dr. Cotta has nothing to disclose. Dr. Paim has nothing to disclose. Dr. Costa E Silva has nothing to disclose. Dr. Cruz has nothing to disclose. Dr. I. Bena has nothing to disclose. Dr. F.A. Betancur has nothing to disclose. Dr. S. El Husny has nothing to disclose. Dr. C.N. de Souza has nothing to disclose. Dr. C.B. Duarte has nothing to disclose. Dr. Reed has nothing to disclose. Dr. L.F. Chaves has nothing to disclose. Dr. Zanotelli has nothing to disclose. Dr. Franca has nothing to disclose. Dr. Saute has nothing to disclose.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/94/15_Supplement/1133}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }