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
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy.
Wang G et al.
Journal of Human Genetics, 2023
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).
Holling T et al.
Human Mutation, 2022
TNNT1 myopathy with novel compound heterozygous mutations.
Lee S et al.
Neuromuscular Disorders : Nmd, 2022
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Géraud J et al.
Journal of Medical Genetics, 2021
Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics.
van de Locht M et al.
International Journal of Molecular Sciences, 2021
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R et al.
Genes, 2021
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Fox MD et al.
Human Molecular Genetics, 2018
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
Konersman CG et al.
Molecular Genetics & Genomic Medicine, 2017
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