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Article

Familial amyloidotic polyneuropathy type I with extracellular superoxide dismutase mutation: a case report.

Human pathology - 1 Oct 1998

Sakashita N, Ando Y, Marklund S L, Nilsson P, Tashima K, Yamashita T, Takahashi K

Abstract excerpt

We report an autopsy case of familial amyloidotic polyneuropathy (FAP) Type I with mutations in both transthyretin (TTR) and extracellular superoxide dismutase (EC-SOD). This patient started to develop peripheral neuropathy at age 25, followed by cardiac, renal, and autonomic nervous system failure due to massive amyloid deposition. Thirteen years after the initial symptoms, he died of septic shock. Autopsy...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9781661
DOI: 10.1016/s0046-8177(98)90433-6

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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