TNNT1, troponin T1, slow skeletal type, 7138

N. diseases: 60; N. variants: 6
Disease: Contracture ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009917
Disease: Contracture
Contracture 		0.010 Biomarker disease BEFREE Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures. 31604653 2019