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Article

Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family.

Muscle & nerve - 1 Aug 1992

Uemichi T, Ueno S, Fujimura H, Umekage T, Yorifuji S, Matsuzawa Y, Tarui S

Abstract excerpt

A Japanese family is described in which 6 persons showed familial amyloid polyneuropathy (FAP). Mean ages of onset were 38 for 4 males and 54 for 2 females. Three of the 6 became emaciated and died after 4 to 10 years. In 5, muscular weakness and autonomic dysfunction were the initial symptoms followed by sensory disturbances. Amyloidotic cardiomyopathy was present in 3 of the subjects. Amyloid deposits showed an...

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Source

Identifiers

PMID: 1353861
DOI: 10.1002/mus.880150807

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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