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Article

Neurophysiological markers of small fibre neuropathy in TTR-FAP mutation carriers.

Journal of neurology - 1 Jun 2013

Lefaucheur Jean-Pascal, Ng Wing Tin Sophie, Kerschen Philippe, Damy Thibaud, Planté-Bordeneuve Violaine

Abstract excerpt

Individuals carrying the amyloidogenic transthyretin (TTR) mutation are predisposed to develop familial amyloid polyneuropathy (FAP). The first clinical manifestations are often subjective sensory symptoms and, therefore, objective markers are needed to confirm the onset of TTR-FAP. The purpose of this study was to evaluate the usefulness of a comprehensive battery of neurophysiological tests to provide early...

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Source

Identifiers

PMID: 23306657
DOI: 10.1007/s00415-012-6816-8

Genes

TTR
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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