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Article

Homozygosity for the transthyretin-Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy.

Neurology - 1 Oct 1992

Yoshinaga T, Nakazato M, Ikeda S, Ohnishi A

Abstract excerpt

We report the cases of three siblings homozygous for a mutated transthyretin (TTR) gene that causes type I familial amyloidotic polyneuropathy (FAP), in whom we made the diagnosis by identifying both the mutated TTR gene and a variant TTR in their sera. Their serum levels for the variant TTR are twice those of patients heterozygous for the gene, but two have late-onset FAP and the third is an elderly asymptomatic...

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Source

Identifiers

PMID: 1407590
DOI: 10.1212/wnl.42.10.2045

Genes

TTR
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Homozygosity for the transthyretin-Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy.PMID 1407590Read ↗

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