Associated Papers
Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility.
Laitila J et al.
The Journal of Physiology, 2025
Integrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle study.
Seaborne RAE et al.
The Journal of Physiology, 2025
Human skeletal muscle fiber heterogeneity beyond myosin heavy chains.
Moreno-Justicia R et al.
Nature Communications, 2025
39971958 (PubMed )
Supplement: 41467_2025_56896_MOESM1_ESM.pdf
A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del).
Yavaş C et al.
Genes & Genomics, 2024
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