title: Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions.
abstract: Benign symmetric lipomatosis, also called Madelung's disease, is characterized by lipomata and fatty infiltrations. Involvement of the nervous system has occasionally been described, mitochondrial dysfunctions have been suggested. We report a 55 year old male suffering from benign symmetric lipomatosis with associated axonal neuropathy and hyperlipoproteinemia. He showed a remarkable phenotype of neuropathy i.e. no sensory disturbance, ubiquitous fasciculations and muscle cramps, furthermore reduced COX activity and abnormalities in specific mitochondrial tRNA regions.
authors.forename: Hans-Jürgen
authors.initials: HJ
authors.lastname: Gdynia
authors.forename: A-D
authors.initials: AD
authors.lastname: Sperfeld
authors.forename: U
authors.initials: U
authors.lastname: Knirsch
authors.forename: V
authors.initials: V
authors.lastname: Homberg
authors.forename: A
authors.initials: A
authors.lastname: Rosenbohm
authors.forename: J
authors.initials: J
authors.lastname: Müller-Höcker
authors.forename: A C
authors.initials: AC
authors.lastname: Ludolph
authors.forename: C O
authors.initials: CO
authors.lastname: Hanemann
mesh_terms: D001369:Axons / Q000502:physiology*; D006801:Humans; D006951:Hyperlipoproteinemias / Q000150:complications / Q000235:genetics*; D008069:Lipomatosis, Multiple Symmetrical / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012343:RNA, Transfer / Q000235:genetics*
chemical_list: D000077278:RNA, Mitochondrial; D012313:RNA; D012343:RNA, Transfer