Article
Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.
Journal of molecular and cellular cardiology - 1 Feb 1997
Nakajima-Taniguchi C, Matsui H, Fujio Y, Nagata S, Kishimoto T, Yamauchi-Takihara K
Abstract excerpt
Familial hypertrophic cardiomyopathy (HCM) is a primary cardiomyopathy with an autosomal dominant pattern of inheritance. The disease bearing genes for HCM in HCM families have been identified as beta-myosin heavy chain, alpha-tropomyosin, cardiac troponin T (cTnT) and myosin binding protein-C ge...
Topics
- Adult
- Aged
- Cardiomyopathy, Hypertrophic
- Death, Sudden
- Female
- Humans
- Hypertrophy, Left Ventricular
- Male
- Middle Aged
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Pregnancy
- Troponin
- Troponin T