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Article

A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.

Journal of medical genetics - 1 Feb 1993

Benson M D, Turpin J C, Lucotte G, Zeldenrust S, LeChevalier B, Benson M D

Abstract excerpt

A transthyretin (TTR) mutation is described in a 44 year old French woman from Caen who presented at the age of 40 with neuropathy in all four extremities, diarrhoea, and orthostatic hypotension. Her father died with a similar syndrome including vitreous opacities. A nerve biopsy from the proband showed amyloid deposits which stained with anti-transthyretin. Direct genomic DNA sequencing of TTR exon 3 showed both...

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Source

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Identifiers

PMID: 8095302
DOI: 10.1136/jmg.30.2.120
PMCID: PMC1016267

Genes

TTR
GCG

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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