Article
Irish (Donegal) amyloidosis is associated with the transthyretinALA60 (Appalachian) variant.
Brain : a journal of neurology - 1 Dec 1991
Staunton H, Davis M B, Guiloff R J, Nakazato M, Miyazato N, Harding A E
Abstract excerpt
A cluster of cases of late onset amyloidosis, presenting chiefly with peripheral neuropathy and cardiac failure, has been described in Donegal, north-west Ireland. Molecular genetic and protein analyses show that two new patients from the same region have a mutation in the transthyretin gene previously reported in a family with an Irish ancestor from the Appalachian region of the United States.
Topics
- Aged
- Amino Acid Sequence
- Amyloidosis
- Appalachian Region
- Cardiac Output, Low
- DNA
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Northern Ireland