Associated Papers
The evolving genetic landscape of neuromuscular fetal akinesias.
Haliloğlu G et al.
Journal of Neuromuscular Diseases, 2025
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S et al.
Science Translational Medicine, 2024
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.
Nishimori Y et al.
Neurology. Genetics, 2022
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