Associated Papers
Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy.
Müller JS et al.
Neuromuscular Disorders : Nmd, 2025
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.
Altin N et al.
Human Mutation, 2025
Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.
Illés A et al.
Children (basel, Switzerland), 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM16_ESM.xlsx › ES_RNA
Ethylmalonic encephalopathy masquerading as meningococcemia.
Horton A et al.
Cold Spring Harbor Molecular Case Studies, 2022
Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Dabaj I et al.
Frontiers in Genetics, 2022
Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics.
van de Locht M et al.
International Journal of Molecular Sciences, 2021
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
Calame DG et al.
Neurology. Genetics, 2021
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Sandaradura SA et al.
Human Mutation, 2018
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