Associated Papers
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
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
The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.
Lu J et al.
Journal of Clinical Laboratory Analysis, 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
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.
Daly SB et al.
Molecular Syndromology, 2014
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Beck AE et al.
American Journal of Medical Genetics. Part A, 2013
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