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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Amino Acid Sequence
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Amyloidosis / complications
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Amyloidosis / genetics*
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Appalachian Region
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Cardiac Output, Low / complications
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Cardiac Output, Low / genetics
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DNA / analysis
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Female
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Humans
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Male
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Molecular Sequence Data
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Mutation*
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Northern Ireland
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Peripheral Nervous System Diseases / complications
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Peripheral Nervous System Diseases / genetics*
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Prealbumin / genetics*
Substances
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Prealbumin
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transthyretin, Ala(60)-
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DNA