Myotilin is not the causative gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM)
Myotilin is not the causative gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM)
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DOI：
10.1111/j.1469-1809.2005.00252.x
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发表时间：
2006-05-01
影响因子：
1.9
通讯作者：
Hauser, MA
中科院分区：
文献类型：
--
作者：
Garvey, SM;Senderek, J;Hauser, MA
Myotilin(MYOT)基因是声带和咽部无力伴远端肌病(VCPDM，又称MPD2)的候选基因。位于VCPDM候选最小间隔内的myotilin突变也会导致类似的进行性和成人起病的肌肉疾病。我们通过序列分析、RT-PCR、Southern blotting和Western blotting检测了VCPDM患者中的myotilin。我们在VCPDM患者中未发现myotilin基因、转录本或蛋白缺陷。我们还报告了几个有用的SNPs和STR来分析肌肉疾病中的myotilin，这些疾病的遗传来源可疑，但尚不清楚。我们得出结论，MYOT突变可能不是VCPDM的原因。
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.