TTN-related myopathy, dominant-negative TTNsv
MONDO:1060225
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.
Disease research snapshot
No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.