Familial amyloidotic polyneuropathy: Report of patients heterozygous for the transthyretin Gly42 gene
- 1 March 1992
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 31 (3) , 340-342
- https://doi.org/10.1002/ana.410310319
Abstract
We studied 2 patients from a Japanese family with familial amyloidotic polyneuropathy (FAP). Their clinical features are similar to type 1 FAP, and the proband's rectal tissue contained amyloid that stained with antihuman transthyretin (TTR) antiserum. Direct DNA sequencing of the proband's TTR gene revealed a guanine‐for‐adenine substitution in the second base of codon 42, producing a glycine for glutamate substitution in the plasma protein.Keywords
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