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Article

Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.

Brain : a journal of neurology - 1 Feb 1999

Brett M, Persey M R, Reilly M M, Revesz T, Booth D R, Booth S E, Hawkins P N, Pepys M B, Morgan-Hughes J A

Abstract excerpt

We report a middle-aged woman with a novel transthyretin (TTR) variant, Leu12Pro. She had extensive amyloid deposition in the leptomeninges and liver as well as the involvement of the heart and peripheral nervous system which characterizes familial amyloid polyneuropathy caused by variant TTR. Cl...

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Source

Identifiers

PMID: 10071047
DOI: 10.1093/brain/122.2.183

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10071047-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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