Garvey Sean M, Senderek Jan, Beckmann Jacques S, Seboun Eric, Jackson Charles E, Hauser Michael A
Center for Human Genetics, Duke University, Durham, NC 27710-2903, USA.
Ann Hum Genet. 2006 May;70(Pt 3):414-6. doi: 10.1111/j.1529-8817.2005.00252.x.
Myotilin (MYOT) is a promising candidate gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM, also known as MPD2). Located within the minimum VCPDM candidate interval, myotilin mutations also cause a similarly progressive and adult-onset muscle disease. We examined myotilin in VCPDM patients by sequence analysis, RT-PCR, Southern blotting, and western blotting. We detected no defects in the myotilin gene, transcript, or protein in VCPDM. We also report several useful SNPs and STRs for the analysis of myotilin in muscle diseases of suspected, yet unknown genetic origin. We conclude that MYOT mutations likely are not a cause of VCPDM.
肌联蛋白（MYOT）是声带和咽肌无力伴远端肌病（VCPDM，也称为MPD2）的一个很有前景的候选基因。肌联蛋白突变位于最小的VCPDM候选区间内，也会导致一种类似的进行性成人发病的肌肉疾病。我们通过序列分析、逆转录聚合酶链反应（RT-PCR）、Southern印迹法和蛋白质免疫印迹法对VCPDM患者的肌联蛋白进行了检测。我们在VCPDM患者中未检测到肌联蛋白基因、转录本或蛋白质存在缺陷。我们还报告了几个有用的单核苷酸多态性（SNP）和短串联重复序列（STR），用于分析遗传起源可疑但未知的肌肉疾病中的肌联蛋白。我们得出结论，MYOT突变可能不是VCPDM的病因。
