ARGENTINEAN PATIENTS OF EUROPEAN ANCESTRY WITH FAMILIAL AMYLOID POLYNEUROPATHY

被引：6
|
作者：
YAMAMOTO, K [1 ]
IKEDA, S [1 ]
YANAGISAWA, N [1 ]
机构：
[1] SHINSHU UNIV,SCH MED,DEPT MED NEUROL,MATSUMOTO,NAGANO 390,JAPAN
来源：
AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION | 1994年 / 1卷 / 02期
关键词：
FAMILIAL AMYLOID; POLYNEUROPATHY; TRANSTHYRETIN (PREALBUMIN); TTR; MET; 30; DNA ANALYSIS; MUTATION;
D O I：
10.3109/13506129409148630
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
A clinicopathological study and transthyretin (TTR) gene analysis were performed on two families with familial amyloid polyneuropathy (FAP) that had recently been found in Argentina. One family originated in Portugal and the other in France/Spain, Patients suffered from sensorimotor polyneuropathy with autonomic dysfunction, and the TTR gene abnormality (Val 30-->Met) was confirmed in both families. TTR-related FAP is more widely distributed than previously recognized.
引用
收藏
页码：90 / 93
页数：4
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