@article {Al-ZaidyS46.002作者= {Samiah Al-Zaidy Vinod马利克和凯利Kneile Xiomara罗萨莱斯和朱莉Gastier-Foster彼得·康和罗勒结束之后和路易Kunkel和史蒂文·摩尔和罗伯特Pyatt和杰瑞Mendell说},title ={创始人γ-Sarcoglycan基因突变导致温和表型肢带肌萎缩症2型c (LGMD2C)拉美裔人口的波多黎各(S46.002)},体积={82}={10}补充数量,elocation-id = {S46.002} ={2014},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:确定一个潜在的奠基者效应E263K突变的γ-Sarcoglycan (SGCG)基因在波多黎各西班牙裔通过执行单体型分析四个家庭从这个人口无关。首页我们也比较临床和免疫组织化学分析与这相关的表型变异。背景:肢带肌萎缩症2型c (LGMD2C)作为常染色体隐性遗传突变γ-sarcoglycan SGCG基因导致缺乏的蛋白质。临床上LGMD2C演示了进步的肌肉无力,小腿肥大和移动的早期损失。LGMD2C流行取决于地理分布SGCG创始者突变的基因。北非(del521T)和欧洲吉普赛(C283Y)创始者突变导致严重的儿童LGMD2C形式。在以前的报告中,小说错义突变(E263K) SGCG基因在两个无关的波多黎各血统的病人提出怀疑的奠基者效应在这个岛上没有证实。方法:两个无关的波多黎各患者(患者1和2)LGMD2C和证实E263K突变进行了全面的临床和组织学评价。从两个之前报道家庭获得DNA(邓肯et al .,神经病学{\ textregistered} 2006)和单体型分析六个多态性微卫星标记内部(D13首页S232)和侧面(D13S175、D13S292 D13S787, D13S1243, D13S283) SGCG基因在所有四个家庭了。结果:患者1和2都有保存移动第二个十年的生活表明温和LGMD2C表现型。 Muscle biopsies demonstrated γ-sarcoglycan deficiency. Two markers, D13S232 and D13S292, confirmed that the haplotype of the mutant allele is shared by all four families. CONCLUSIONS:The E263K missense mutation in the SGCG gene is a founder mutation in the Hispanic Puerto Rican population that is associated with a milder phenotype of LGMD2C. The clinical presentation and the capacity for targeted diagnostic testing stress the importance of this finding. Study Supported by: NIH Ruth L. Kirschtein (T32) Training Grant through the Research Institute at Nationwide Children{\textquoteright}s Hospital.Disclosure: Dr. Al-Zaidy has nothing to disclose. Dr. Malik has nothing to disclose. Dr. Kneile has nothing to disclose. Dr. Rosales has nothing to disclose. Dr. Gastier-Fosteer has received personal compensation for activities with Inova Health Sciences as a participant in a discussion group. Dr. Kang has received personal compensation for activities with Brookes Publishing and ISIS Pharmaceuticals. Dr. Kang has received research support from ISIS Pharmaceuticals. Dr. Darras has received personal compensation for activities with UpToDate Inc., Isis Pharmaceuticals, and Athena Diagnostics. Dr. Darras has received research support from PTC Therapeutics Inc. Dr. Kunkel has nothing to disclose. Dr. Moore has nothing to disclose. Dr. Pyatt has nothing to disclose. Dr. Mendell has received research support from Sarepta Therapeutics Inc.Thursday, May 1 2014, 1:00 pm-2:45 pm}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/82/10_Supplement/S46.002}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }