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Article

[Familial amyloidotic polyneuropathy with a transthyretin variant (Val30-->Leu)].

No to shinkei = Brain and nerve - 1 Feb 1996

Shimizu H, Ishikawa K, Kobayashi H, Murakami T, Nakazato M, Miura K, Atsumi T

Abstract excerpt

We report a Japanese woman with familial amyloidotic polyneuropathy (FAP) with a transthyretin variant that substituted leucine for valine at position 30. Family history was not informative. She had initially suffered from repeated petechiae in the eyelids at the age of 51. Two years later, dysesthesia in the lower extremities appeared. Distal muscle weakness and sensory disturbance gradually developed. Autonomic...

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Source

Identifiers

PMID: 8865698

Genes

FAP

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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