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Article

Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy.

Muscle & nerve - 1 Jun 2008

Tojo Kana, Sekijima Yoshiki, Machida Kazuko, Tsuchiya Ayako, Yazaki Masahide, Ikeda Shu-Ichi

Abstract excerpt

We report an amyloidogenic transthyretin (ATTR) Val30Met homozygote showing extremely early-onset, severe familial amyloid polyneuropathy (FAP). Although homozygotes have been reported to show late-onset and mild clinical manifestations, detailed analyses of the present and previously reported families suggest that homozygotes have a slightly more severe clinical course than heterozygotes. This is the youngest...

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Source

Identifiers

PMID: 18506713
DOI: 10.1002/mus.21028

Genes

FAP
TTR

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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