PT -期刊文章盟M.B.危害盟——p·奥尔雷德盟——r·加德纳Jr . AU - j费尔南德斯球场盟a - j .佛罗伦萨盟Pestronk AU - m . Al-Lozi盟r.h Baloh TI -显性脊椎和下肢肌肉萎缩- 10.1212 / WNL优势援助。0 b013e3181ec800c DP - 2010 8月10 TA -神经首页病学第六PG - 539 - 546 - 75 IP - 6 4099 - //www.ez-admanager.com/content/75/6/539.short 4100 - //www.ez-admanager.com/content/75/6/539.full所以Neurology2010 8月10;75 AB -目的:脊髓性肌萎缩(sma)是遗传疾病的特点是弱点从脊髓运动神经元变性。尽管大多数SMA例近端软弱是隐性遗传,罕见的已报告有显性遗传的家庭。我们旨在临床、病理和基因特征的一个大型北美有一种常染色体显性遗传近端SMA的家庭。方法:受影响的家庭成员进行了临床和电生理学的评估。二十个家庭成员在高密度全基因组SNP基因分型数组和连锁分析。影响结果:十个人(7-58岁)显示突出的股四头肌萎缩,中度到重度的股四头肌和臀部绑架者的弱点,在其他腿部肌肉和温和的程度的弱点。上肢力量和感觉是正常的。腿的弱点很明显从童年早期和静态或非常慢慢地进步。慢性去神经电生理学和肌肉活检是一致的。 SNP-based linkage analysis showed a maximum 2-point lod score of 5.10 (θ = 0.00) at rs17679127 on 14q32. A disease-associated haplotype spanning from 114 cM to the 14q telomere was identified. A single recombination narrowed the minimal genomic interval to Chr14: 100,220,765–106,368,585. No segregating copy number variations were found within the disease interval. Conclusions: We describe a family with an early onset, autosomal dominant, proximal SMA with a distinctive phenotype: symptoms are limited to the legs and there is notable selectivity for the quadriceps. We demonstrate linkage to a 6.1-Mb interval on 14q32 and propose calling this disorder spinal muscular atrophy–lower extremity, dominant.