可能在心肌病患者的 DMPK 基因中存在 CTG 重复扩展。
Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy.
机构信息
First Department of Internal Medicine, Osaka Medical College, 2-7 Daigaku-cho, Takatsuki 569-8686, Japan.
出版信息
J Clin Neurosci. 2010 Mar;17(3):408-9. doi: 10.1016/j.jocn.2009.06.010. Epub 2010 Jan 13.
PMID:20074967
Abstract
CTG triplet repeats of "normal" length in the myotonic dystrophy protein kinase (DMPK) gene have been previously believed to be stable and new pathological expansion was not believed to occur. Here we report possible de novo CTG repeat expansion in the DMPK gene in a patient with cardiomyopathy, who was not diagnosed as having myotonic dystrophy type 1 (DM1) by conventional genetic tests.
摘要
先前认为肌强直性营养不良蛋白激酶 (DMPK) 基因中的“正常”长度的 CTG 三核苷酸重复是稳定的，并且不会发生新的病理性扩展。在这里，我们报告了一位患有心肌病的患者中 DMPK 基因可能发生的从头 CTG 重复扩展，该患者通过常规遗传测试未被诊断为肌强直性营养不良 1 型 (DM1)。
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