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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...

Topics

Adult
Amino Acid Sequence
Amyloidosis
Base Sequence
DNA
DNA Mutational Analysis
Female
Genetic Variation
Humans
Molecular Sequence Data
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Peripheral Nervous System Diseases

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Prealbumin

Source

Open in PubMed Open full text

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 29 Aug 2026. Prepared record publication-8095302-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.PMID 8095302Read ↗

A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.Semantic proximity Read ↗

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