Mutations in the human cardiac troponin T gene (TNNT2) are associated with familial hypertrophic cardiomyopathy (FHC) linked to chromosome 1q3 (CMH2). Mutation analyses of TNNT2 have been restricted to RNA-based screening methods because only the TNNT2 cDNA sequence was known. We characterized the g
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
✍ Scribed by Bernard Hoffmann; Hajo Schmidt-Traub; Andreas Perrot; Karl Josef Osterziel; Reinhard Geßner
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 15 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Friedreich Ataxia (FA) is a neurodegenerative disorder characterised by progressive gait disturbance, dysarthria, dysmetria and other coordination disorders. The genetic defect is represented by an expansion of GAA repeats in the frataxin gene (FRDA or X25). Hypertrophic cardiomyopathy is a common f
We performed transcatheter alcohol ablation of the septum in a case of hypertrophic obstructive cardiomyopathy. The patient showed marked reduction in LVOT gradient; however, he developed complete atrioventricular (AV) dissociation following the procedure, requiring AV sequential pacing. This import