Homozygosity for the transthyretin-Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy.

doi:10.1212/wnl.42.10.2045

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Article

Homozygosity for the transthyretin-Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy.

Neurology - 1 Oct 1992

Yoshinaga T, Nakazato M, Ikeda S, Ohnishi A

Abstract excerpt

We report the cases of three siblings homozygous for a mutated transthyretin (TTR) gene that causes type I familial amyloidotic polyneuropathy (FAP), in whom we made the diagnosis by identifying both the mutated TTR gene and a variant TTR in their sera. Their serum levels for the variant TTR are...

Topics

Aged
Amyloid
Amyloidosis
Chromatography, High Pressure Liquid
DNA
Female
Genes
Homozygote
Humans
Male
Molecular Probes
Mutation
Nervous System Diseases
Pedigree
Polymerase Chain Reaction
Prealbumin

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