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Article

Clinical and histopathological features of progressive-type familial amyloidotic polyneuropathy with TTR Lys54.

Journal of the neurological sciences - 15 Jan 2009

Nagasaka Takamura, Togashi Shinji, Watanabe Harue, Iida Haruyasu, Nagasaka Kaori, Nakamura Yuki, Miwa Michiaki, Kobayashi Fumikazu, Shindo Kazumasa, Shiozawa Zenji

Abstract excerpt

The purpose of this study was to evaluate the clinical and pathological features in patients with progressive-type familial amyloidotic polyneuropathy (FAP) using autopsy and biopsy specimens. A proband is a 33-year-old man with FAP type I who developed motor, sensory and autonomic impairments wi...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18930252
DOI: 10.1016/j.jns.2008.09.011

Genes

TTR
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18930252-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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