Mitochondrial dysfunction in multiple symmetrical lipomatosis.
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.
Berkovic
S F
SF
Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Andermann
F
F
Shoubridge
E A
EA
Carpenter
S
S
Robitaille
Y
Y
Andermann
E
E
Melmed
C
C
Karpati
G
G
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*
D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV