title: MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient.
abstract: Myoclonic epilepsy with ragged red fibers (MERRF), also called Fukuhara's disease, is sometimes accompanied by the rare symptom of multiple symmetric lipomatosis (MSL). MSL associated with MERRF has been reported mainly in Caucasians; such cases have not been reported in Japanese patients. We report the case of a 59-year-old Japanese woman with MERRF syndrome associated with A-->G substitution at nucleotide 8,344 of mtDNA. This case suggests that differences in lifestyle and gene polymorphism among races may be related to the prevalence of MSL due to mitochondrial abnormality, and that mitochondrial abnormalities should be considered as a cause of MSL even in Japanese patients.
authors.affiliation: Department of Neurology, Tokyo Metropolitan Neurological Hospital. j3737@tmnh.fuchu.tokyo.jp
authors.forename: Junpei
authors.initials: J
authors.lastname: Kobayashi
authors.forename: Masahiro
authors.initials: M
authors.lastname: Nagao
authors.forename: Kazuhito
authors.initials: K
authors.lastname: Miyamoto
authors.forename: Shiro
authors.initials: S
authors.lastname: Matsubara
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D007564:Japan; D008069:Lipomatosis, Multiple Symmetrical / Q000175:diagnosis* / Q000208:ethnology / Q000209:etiology*; D017243:MERRF Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000208:ethnology; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial