Article
Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility.
The Journal of physiology - 1 Jun 2025
Laitila Jenni, Lewis Christopher T A, Hessel Anthony L, Primiano Guido, Hernandez-Lain Aurelio, Fiorillo Chiara, Lawlor Michael W, Ottenheijm Coen A C, Jungbluth Heinz, Man Ka Fu, Fornili Arianna, Ochala Julien
Abstract excerpt
In skeletal muscle, troponin T (TnT) exists in two isoforms, slow skeletal TnT (ssTnT) and fast skeletal TnT (fsTnT), encoded by the TNNT1 and TNNT3 genes, respectively. Nonsense or missense TNNT1 variants have been associated with skeletal muscle weakness and contractures and a histopathological appearance of nemaline myopathy (NM) on muscle biopsy. Little is known about how TNNT1 mutations ultimately lead to...
Topics
- Humans
- Troponin T
- Muscle Contraction
- Male
- Female
- Myopathies, Nemaline
- Myofibrils
- Adult
- Muscle, Skeletal
- Mutation