PT -期刊文章盟Samiah Al-Zaidy AU - Vinod Malik AU -凯利Kneile盟-罗萨莱斯Xiomara AU -朱莉Gastier-Foster盟-彼得·康盟-罗勒结束AU -路易Kunkel AU -史蒂文·摩尔盟创始人罗伯特•Pyatt AU -杰瑞Mendell说TIγ-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) DP - 2014 Apr 08年TA -神经病学PG - S46.002 VI - 82 IP - 10补充4099 - //www.ez-admanager.com/content/82/10_Supplement/S46.002.short 4100 - //www.ez-admanager.com/content/82/10_Supplement/S46.002.full所以Neurology2014 Apr 08年;首页82 AB -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。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 ., 2006年神经病学®)和单体型分析六个多态性微卫星标记内部(D13S232)和侧面(D13S175首页、D13S292 D13S787, D13S1243, D13S283) SGCG基因在所有四个家庭了。 RESULTS:Patients 1 and 2 both had preserved ambulation in the second decade of life suggesting a milder LGMD2C phenotype. 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’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