Case Report : Non-Val30Met TTR Type Familial Amyloid Polyneuropathy With Asp38Ala Mutation
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초록
Familial amyloid polyneuropathy (FAP), a genetic disease showing the autosomal dominant inheritance pattern was first reported by Andrade in 1952. There are three precursor proteins of amyloid inducing FAP: transthyretin (TTR), Apolipoprotein A-1, and Gelsolin. Among these three proteins, abnormal TTR expression by point mutation is most frequently discovered in FAP. Although TTR type FAP has been treated and classified according to clinical findings in the past, it is classified genetically in these days. Since the substitution of methionine for valine at position 30 is most common gene mutation, TTR type FAP is divided into Val30Met type FAP and uncommon non-Val30Met type FAP. Because Asp38Ala mutation type is rarely reported in uncommon non-Val30Met type FAP, we are reporting the clinical characteristics and disease progression of non-Val30Met Type FAP with Asp38Ala Mutation.
Abstract
Familial amyloid polyneuropathy (FAP), a genetic disease showing the autosomal dominant inheritance pattern was first reported by Andrade in 1952. There are three precursor proteins of amyloid inducing FAP: transthyretin (TTR), Apolipoprotein A-1, and Gelsolin. Among these three proteins, abnormal TTR expression by point mutation is most frequently discovered in FAP. Although TTR type FAP has been treated and classified according to clinical findings in the past, it is classified genetically in these days. Since the substitution of methionine for valine at position 30 is most common gene mutation, TTR type FAP is divided into Val30Met type FAP and uncommon non-Val30Met type FAP. Because Asp38Ala mutation type is rarely reported in uncommon non-Val30Met type FAP, we are reporting the clinical characteristics and disease progression of non-Val30Met Type FAP with Asp38Ala Mutation.
참고문헌 (13)
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