title: A homozygous M694V mutation of the MEFV gene in a patient with periodic fever and thoracic pain.
abstract: A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fever. The role of DNA analysis is discussed with respect to understanding the pathogenesis of the fever and assessing the risk of amyloidosis in specific mutations of the MEFV gene.
authors.affiliation: Department of Internal Medicine, State University Hospital Groningen, The Netherlands. a.van.de.loosdrecht@int.azg.nl
authors.forename: A A
authors.initials: AA
authors.lastname: van de Loosdrecht
authors.forename: F G
authors.initials: FG
authors.lastname: van der Kleij
authors.forename: C A
authors.initials: CA
authors.lastname: van Minnen
authors.forename: B P
authors.initials: BP
authors.lastname: Hazenberg
mesh_terms: D000328:Adult; D002637:Chest Pain / Q000209:etiology; D002885:Chromosomes, Human, Pair 16; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; D005819:Genetic Markers; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin