新发无义变异和母系遗传剪接位点变异所致中央核性肌病：一例报告
Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant in : A case report.
作者信息
Huang Sheng, Ma Yinan, Zhang Yu, Xiong Hui, Chang Xingzhi
机构信息
Department of Pediatrics Peking University First Hospital Beijing China.
Department of Neurology Wuhan Children's Hospital Tongji Medical College Huazhong University of Science & Technology Wuhan China.
出版信息
Clin Case Rep. 2021 Jul 16;9(7):e04478. doi: 10.1002/ccr3.4478. eCollection 2021 Jul.
Abstract
Next-generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult. Here, we provided a useful way to identify compound heterozygous mutations with a de novo one.
摘要
下一代测序导致了罕见的从头肌联蛋白（TTN）变异的大量涌现。对患有隐性肌联蛋白病患者的这些从头变异进行临床解读非常困难。在此，我们提供了一种有用的方法来识别与一个从头变异构成的复合杂合突变。
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