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
A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del).
Yavaş C et al.
Genes & Genomics, 2024
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
Martín-Jiménez P et al.
Muscle & Nerve, 2022
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).
Holling T et al.
Human Mutation, 2022
Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient.
Petrucci A et al.
Neuromuscular Disorders : Nmd, 2021
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