IRISH (DONEGAL) AMYLOIDOSIS IS ASSOCIATED WITH THE TRANSTHYRETINALA 60 (APPALACHIAN) VARIANT
- 1 January 1991
- journal article
- case report
- Published by Oxford University Press (OUP) in Brain
- Vol. 114 (6) , 2675-2679
- https://doi.org/10.1093/brain/114.6.2675
Abstract
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.Keywords
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