Familial amyloidotic polyneuropathy: report of patients heterozygous for the transthyretin Gly42 gene.
We studied 2 patients from a Japanese family with familial amyloidotic polyneuropathy (FAP). Their clinical features are similar to type 1 FAP, and the proband's rectal tissue contained amyloid that stained with antihuman transthyretin (TTR) antiserum. Direct DNA sequencing of the proband's TTR gene revealed a guanine-for-adenine substitution in the second base of codon 42, producing a glycine for glutamate substitution in the plasma protein.
Murakami
T
T
First Department of Internal Medicine, Kumamoto University Medical School, Japan.
Yi
S
S
Yamamoto
K
K
Maruyama
S
S
Araki
S
S
D000328:Adult; D000682:Amyloid / Q000235:genetics*; D000686:Amyloidosis / Q000235:genetics*; D003062:Codon; D004252:DNA Mutational Analysis; D005796:Genes; D006579:Heterozygote; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*
D000682:Amyloid; D003062:Codon; D011228:Prealbumin; C075794:transthyretin, Gly(42)-