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Article

New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy.

Muscle & nerve - 1 Jul 2000

de Carvalho M, Moreira P, Evangelista T, Ducla-Soares J L, Bento M, Fernandes R, Saraiva M J

Abstract excerpt

A 62-year-old Portuguese man, with no history of familial amyloid polyneuropathy (FAP), and a 2(1/2)-year history of tingling in the toes and sexual dysfunction was found neurophysiologically to have a sensory-motor axonal polyneuropathy. Autonomic tests showed slight sympathetic and marked parasympathetic involvement. Heart, kidney, and eyes were normal. Single strand conformation polymorphism (SSCP) mutation...

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Source

Identifiers

PMID: 10882995
DOI: 10.1002/1097-4598(200007)23:7<1016::aid-mus3>3.0.co;2-w

Genes

TTR
FAP

Variants

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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