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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 fo...

Topics

Adult
Amyloidosis
Autonomic Nervous System Diseases
Biopsy
Exons
Female
Humans
Male
Middle Aged
Muscular Atrophy
Mutation
Pedigree
Peripheral Nervous System Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

Prealbumin

Sural Nerve

Source

Identifiers

PMID: 1353861
DOI: 10.1002/mus.880150807

Genes

TTR
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1353861-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family.PMID 1353861Read ↗

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