Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant in TTN: A case report.

由 TTN 中的从头无义变体和母体遗传的剪接位点变体引起的中央核肌病 ： 一例报告。

• 发表时间: Jul 2021
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.4478
• PMID: 34295493
• 文章类型: Case Reports
• 作者列表: Huang S,Ma Y,Zhang Y,Xiong H,Chang X

关键词: TTN; autosomal recessive; centronuclear myopathy; de novo

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

下一代测序导致罕见的从头TTN变体的爆发。隐性肌动蛋白病患者的这些从头变异的临床解释非常困难。这里,我们提供了一种有用的方法来鉴定具有从头一个的复合杂合突变。