Different intrafamilial clinical presentation of FMF mutation carriers.
作者信息
Chalevelakis Georgios, Apostolakis Ioannis, Koliou Xeni, Apessos Angela, Kyriakopoulou Vanessa, Vrakidou Evfimia, Vasilopoulou Adamantia, Lamnisou Kleoniki, Nasioulas Georgios
机构信息
Department of Internal Medicine, Hospital "Henry Dunant," Athens, Greece.
出版信息
Genet Test. 2008 Mar;12(1):125-7. doi: 10.1089/gte.2007.0068.
PMID:18318646
Abstract
Familial Mediterranean fever (FMF) is a heterogeneous disorder; at present, it is diagnosed using only genetic methods. In the current study, we performed molecular analysis in two families presenting with FMF. In the first family, we report two brothers with a common genotype (M694V/V726A) but with different clinical presentation. In the second family, we identified the M694V and K695R mutations in a presymptomatic carrier.
摘要
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