TTN-related myopathy, dominant-negative TTNsv
Findings
No curated finding names TTN-related myopathy, dominant-negative TTNsv yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A skeletal muscle disorder caused by heterozygous multi-exon in-frame structural variants of TTN (TTNsv) that escape nonsense-mediated decay and result in expression of an internally deleted titin isoform with dominant-negative effects on sarcomere structure and function. Affected individuals typically present with congenital, childhood-onset, or adult-onset proximal and/or distal muscle weakness, often accompanied by joint contractures, and may develop respiratory involvement or cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:1060225), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TTNHGNC:12403
- Moderate · ClinGen · Autosomal dominant · 2026
Where it sits
- A kind of