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Keywords:

  • familial amyloid polyneuropathy;
  • variant transthyretin;
  • point mutation;
  • DNA diagnosis

Abstract

A rare variant transthyretin that has a leucine-for-valine substitution at position 30 was reported in a sporadic case of type 1 familial amyloid polyneuropathy (FAP). We found the same substitution in members of a Japanese family with FAP. Three individuals in this family had a guanine-to-cytosine mutation at the first base of codon 30 in exon 2. This family shows a direct link between a valine-to-leucine substitution at position 30 and type 1 FAP. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21: 1783–1785, 1998