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Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

3 Apr 2024

Abstract excerpt

Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast ( TNNI2 ) and TnI-slow ( TNNI1 ), are predominantly expressed in fast- and slow-twitch myofibers, respectively. TNNI2 variants are a rare cause of arthrogryposis, whereas TNNI1 variants have not been conclusively established to cause skeletal myopathy. We identified recessive loss-of-function TNNI1 variants as well...

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PMID: 38569017
DOI: 10.1126/scitranslmed.adg2841

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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