Associated Papers
Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.
Han D et al.
Animal Cells and Systems, 2025
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
Seyama R et al.
Journal of Human Genetics, 2023
A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.
Li Y et al.
Molecular Genetics & Genomic Medicine, 2022
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.
Nishimori Y et al.
Neurology. Genetics, 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
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.
Čulić V et al.
Human Genome Variation, 2016
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