Article
A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.
Journal of neuromuscular diseases - 1 Sept 2025
Laarne Milla, Oghabian Ali, Laitila Jenni, Isohanni Pirjo, Tynninen Olli, Zhao Fang, Rostedt Fanny, Sarparanta Jaakko, Sagath Lydia, Lawlor Michael W, Wallgren-Pettersson Carina, Lehtokari Vilma-Lotta, Pelin Katarina
Abstract excerpt
BACKGROUND: Slow skeletal troponin T (ssTnT, TNNT1) is the tropomyosin-binding subunit of the troponin complex in the slow-twitch fibers of skeletal muscle. Exon 5 of TNNT1 is alternatively spliced, and retention of the 3' region of intron 11 (exon 12') has also been described. Variants in TNNT1 are known to cause nemaline myopathy (NM). OBJECTIVE: To identify and further investigate the disease-causing variant...
Topics
- Female
- Humans
- Homozygote
- Muscle, Skeletal
- Myopathies, Nemaline
- Polymorphism, Single Nucleotide
- Protein Isoforms
- Troponin T