Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions.
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.
Gdynia
Hans-Jürgen
HJ
Sperfeld
A-D
AD
Knirsch
U
U
Homberg
V
V
Rosenbohm
A
A
Müller-Höcker
J
J
Ludolph
A C
AC
Hanemann
C O
CO
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*
D000077278:RNA, Mitochondrial; D012313:RNA; D012343:RNA, Transfer