title: Mitochondrial DNA mutations in multiple symmetric lipomatosis.
abstract: Multiple symmetric lipomatosis (MSL) is a rare disorder of middle life characterized by large subcutaneous fat masses around the neck, shoulders and other parts of the trunk. Peripheral neuropathy is a common finding in these predominantly male patients. Employing electrophysiological measures, we found additional signs of central nervous system involvement in a majority of patients. Etiologically, there is an association with mitochondrial dysfunction. In muscle biopsy, we found ragged red fibers in 8 of 12 patients. Molecular genetic analysis revealed multiple deletions of mitochondrial DNA in one patient and the MERRF mutation at nucleotide 8344 in another. In this review, we summarize our clinical, electrophysiological morphological, biochemical and molecular genetic findings in 17 MSL patients, and give a survey of the literature.
authors.affiliation: Department of Neurology, University of Würzburg, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Klopstock
authors.forename: M
authors.initials: M
authors.lastname: Naumann
authors.forename: P
authors.initials: P
authors.lastname: Seibel
authors.forename: B
authors.initials: B
authors.lastname: Shalke
authors.forename: K
authors.initials: K
authors.lastname: Reiners
authors.forename: H
authors.initials: H
authors.lastname: Reichmann
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008068:Lipomatosis; D008069:Lipomatosis, Multiple Symmetrical / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial