title: Mitochondrial dysfunction in multiple symmetrical lipomatosis.
abstract: Multiple symmetrical lipomatosis is a striking clinical finding associated with a variety of peripheral and central nervous system abnormalities. We describe 4 unrelated patients with evidence of mitochondrial dysfunction in skeletal muscle. Multiple symmetrical lipomatosis is an additional, albeit unusual, manifestation of the expanding clinical spectrum of mitochondrial diseases.
authors.affiliation: Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
authors.forename: S F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: F
authors.initials: F
authors.lastname: Andermann
authors.forename: E A
authors.initials: EA
authors.lastname: Shoubridge
authors.forename: S
authors.initials: S
authors.lastname: Carpenter
authors.forename: Y
authors.initials: Y
authors.lastname: Robitaille
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: C
authors.initials: C
authors.lastname: Melmed
authors.forename: G
authors.initials: G
authors.lastname: Karpati
mesh_terms: D000328:Adult; D001284:Atrophy; D004272:DNA, Mitochondrial / Q000032:analysis; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006801:Humans; D008069:Lipomatosis, Multiple Symmetrical / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000473:pathology*; D009132:Muscles / Q000201:enzymology / Q000473:pathology*
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV