Correlation Engine 2.0
Clear Search sequence regions

  • asian (1)
  • brother (1)
  • exon (1)
  • humans (1)
  • korean (1)
  • locomotor activity (1)
  • muscle skeletal (1)
  • neck muscles (1)
  • patient (2)
  • TNNT1 (5)
  • troponin t (2)
  • zebrafish (2)
  • Sizes of these terms reflect their relevance to your search.

    Nemaline myopathies are clinically and genetically heterogeneous disorders caused by several different genes. One of them is TNNT1, which was initially described in Amish families and has not been reported in Asian populations. Although most TNNT1 myopathies are caused by loss-of-function mutations, several recent studies have shown that missense mutations can also be pathogenic. A 16-year-old Korean boy with progressive muscle weakness visited the Seoul National University Hospital. He showed generalized myopathy, which was predominant in the paraspinal and neck muscles. Moreover, nemaline rods were observed in a muscle biopsy. Whole-exome sequencing of DNA samples of the patient and his younger brother, who had a similar phenotype, revealed novel compound heterozygous mutations in TNNT1 (c.724G>C (p.Ala242Pro) and c.611+1G>A). Sanger sequencing of cDNA extracted from muscle samples of the patient confirmed partial or total skipping of exon 11 in the splicing variant. The impact of the missense variant on muscle integrity and locomotor activity was verified using a zebrafish loss-of-function model. Here, we reported novel familial cases of TNNT1 myopathy with intermediate clinical presentations caused by compound heterozygous mutations and demonstrated their functional defects using an animal model. Copyright © 2021 Elsevier B.V. All rights reserved.


    Seungbok Lee, Juneyong Eum, Soojin Park, Seoyoung Ki, Byung Joon Hwang, Yun Kee, Jong Hee Chae. TNNT1 myopathy with novel compound heterozygous mutations. Neuromuscular disorders : NMD. 2022 Feb;32(2):176-184

    Expand section icon Mesh Tags

    Expand section icon Substances

    PMID: 35165004

    View Full Text