Article
The cardiac myosin heavy chain Arg-403-->Gln mutation that causes hypertrophic cardiomyopathy does not affect the actin- or ATP-binding capacities of two size-limited recombinant myosin heavy chain fragments.
The Biochemical journal - 1 Mar 1995
Eldin P, Le Cunff M, Mornet D, Leger J J
Abstract excerpt
Our aim was to investigate the potential functional consequences of myosin heavy chain (MHC) mutations identified in patients with familial hypertrophic cardiomyopathy. We observed the presence of a mutated beta-MHC mRNA in a formalin-fixed paraffin-embedded myocardial tissue of a proband from fa...
Topics
- Actins
- Adenosine Triphosphate
- Arginine
- Base Sequence
- Binding Sites
- Cardiomyopathy, Hypertrophic
- Gene Expression
- Glutamine
- Heart Ventricles
- Humans
- Molecular Sequence Data
- Mutation
- Myocardium
- Myosins
- Peptide Fragments