ArticleJournal of medical genetics2021
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 20 citations in OpenAlex.
- Expanding the spectrum ofJournal of neuromuscular diseases · 2025Article
- A homozygous single-nucleotide variant inJournal of neuromuscular diseases · 2025Article
- A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del).Genes & genomics · 2024Article
- Article
- FUS-Mediated Inhibition of Myogenesis Elicited by Suppressing TNNT1 Production.Molecular and cellular biology · 2024Article
- WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.Annals of clinical and translational neurology · 2023Observational
- Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.BMC pediatrics · 2022Article
- Article
- Biallelic Pathogenic Variants inNeurology. Genetics · 2021Article
- Troponin Variants as Markers of Skeletal Muscle Health and Diseases.Frontiers in physiology · 2021Review
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Authors and funding
22 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres.
methodsUsing next-generation sequencing, we identified three patients with pathogenic variants in the
resultsThe clinical phenotype was similar in all patients, associating hypotonia, orthopaedic deformities and progressive chronic respiratory failure, leading to early death. The anatomopathological phenotype was characterised by a disproportion in the muscle fibre size, endomysial fibrosis and nemaline rods. Molecular analyses of DISCUSSION: The clinical and anatomopathological presentations of our patients reinforce the homogeneous character of the phenotype associated with recessive
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