Article
Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.
The American journal of pathology - 1 Jan 1999
Hamidi Asl L, Liepnieks J J, Hamidi Asl K, Uemichi T, Moulin G, Desjoyaux E, Loire R, Delpech M, Grateau G, Benson M D
Abstract excerpt
Autosomal dominant hereditary amyloidosis with a unique cutaneous and cardiac presentation and death from heart failure by the sixth or seventh decade was found to be associated with a previously unreported point mutation (thymine to cytosine, nt 1389) in exon 4 of the apolipoprotein A1 (apoA1) g...
Topics
- Amino Acid Sequence
- Amino Acid Substitution
- Amyloid
- Amyloidosis
- Apolipoprotein A-I
- Cardiomyopathies
- Fatal Outcome
- Female
- Genetic Variation
- Humans
- Middle Aged
- Molecular Sequence Data
- Myocardium
- Pedigree
- Skin