Article
MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?
Clinical genetics - 1 Jun 2000
Tekin M, Yalçinkaya F, Cakar N, Akar N, Misirlioğlu M, Taştan H, Tümer N
Abstract excerpt
Familial Mediterranean fever (FMF) is an autosomal recessive disease. It is characterized by recurrent febrile episodes in association with peritonitis, pleuritis, and arthritis. Progressive systemic amyloidosis is the most important complication of FMF that inevitably leads to chronic renal failure. Recently, the gene for FMF, MEFV, has been cloned and four missense mutations have been described: M694V, M680I,...
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