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Abstract
We describe a novel transthyretin mutation in which phenylalanine is replaced with isoleucine in exon 3 at codon 64: Phe64Ile. The mutation was found in an isolated patient and it was not possible to perform a family study. The phenotype included heart and peripheral nerve involvement associated with a possible gastrointestinal and renal involvement.
| Abbreviations | ||
| TTR | = | transthyretin |
| FAP | = | familial amyloid polyneuropathy |
| NYHA | = | New York Heart Association |
| NT-proBNP | = | N-terminal pro-brain natriuretic peptide |
| LVEF | = | left ventricular ejection fraction |
| IVRT | = | isovolumetric relaxation time |
| Abbreviations | ||
| TTR | = | transthyretin |
| FAP | = | familial amyloid polyneuropathy |
| NYHA | = | New York Heart Association |
| NT-proBNP | = | N-terminal pro-brain natriuretic peptide |
| LVEF | = | left ventricular ejection fraction |
| IVRT | = | isovolumetric relaxation time |