Click on the icon on the upper right hand side for the article by Daniel Cattan, MD, Michael Dervichian, MD, Michael Thomas, Catarine Dode Dpharm and Isabelle Touitou, MD, published in IMAJ.
IMAJ 2001; 3; November; 803-804
Abstract
Background: Familial Mediterranean fever is a genetic disease in which some characteristic gene mutation have been found.
Objective: To analyze the phenotype-genotype correlations in North African Jews and Armedians with FMF.
Methods: We studied MEFV gene mutations and phenotype-genotype correlations in North African Jews and Armedians with Familial Mediterranean Fever living in France.
Results: M694V mutation was the most common mutation in Jews and in Armenians. Patients with M6801 homozygosity or M6801/M694V compound heterozygosity had a phenotype as severe as patients with M694V homozygosity.
Conclusions: This study characterizes the phenotype-genotype in specific ethnic groups of patients with FMF.
Key words