Familial amyloidotic polyneuropathy: report of patients heterozygous for the transthyretin Gly42 gene.
case_report · Level V
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Abstract
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.
Medical subject headings
- Amyloid
- Amyloidosis
- Nervous System Diseases
- Prealbumin