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Article

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

Journal of medical genetics - 1 Feb 1993

Benson M D, Julien J, Liepnieks J, Zeldenrust S, Benson M D

Abstract excerpt

A transthyretin mutation was discovered in a French family with familial amyloidotic polyneuropathy originally described in 1983. The syndrome is of early onset (approximate age 35 to 40) with carpal tunnel syndrome. Death is from cardiac disease. By direct genomic DNA sequencing an A-->G mutation was found in the position corresponding to the first base of transthyretin codon 49. The predicted alanine for...

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Identifiers

PMID: 8095301
DOI: 10.1136/jmg.30.2.117
PMCID: PMC1016266

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