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An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene

Other Titles
 An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene 
Authors
 H. S. Kim ; S.-M. Kim ; S.-W. Kang ; S.-C. Jung ; K.-S. Lee ; T.-S. Kim ; Y.-C. Choi 
Citation
 European Journal of Neurology, Vol.12.0(8) : 657~659, 2005 
Journal Title
 European Journal of Neurology 
ISSN
 1351-5101 
Issue Date
2005
Abstract
We report a patient with familial amyloid polyneuropathy. Gene analysis revealed a heterozygous Glu54Gly substitution (A-to-G change) in the transthyretin gene. This is the first case of a Glu54Gly substitution that was devoid of a Gly6Ser substitution. Compared with the previously reported case with compound heterozygotes of Glu54Gly and Gly6Ser, the age of onset in our case is much younger and another characteristic findings were the amyloid vasculopathy and the multiple organ involvement. A Glu54Gly mutation is amyloidogenic by itself and a Gly6Ser mutation may offer some protection from the Glu54Gly mutant.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/147655
DOI
10.1111/j.1468-1331.2005.01005.x
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Rehabilitation Medicine
1. 연구논문 > 1. College of Medicine > Dept. of Neurology
1. 연구논문 > 1. College of Medicine > Dept. of Pathology
Yonsei Authors
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