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H. STAUNTON, M. B. DAVIS, R. J. GUILOFF, M. NAKAZATO, N. MIYAZATO, A. E. HARDING, IRISH (DONEGAL) AMYLOIDOSIS IS ASSOCIATED WITH THE TRANSTHYRETINALA 60 (APPALACHIAN) VARIANT, Brain, Volume 114, Issue 6, December 1991, Pages 2675–2679, https://doi.org/10.1093/brain/114.6.2675
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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.
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