Journal article

Mitochondrial dysfunction in multiple symmetrical lipomatosis

SF Berkovic, F Andermann, EA Shoubridge, S Carpenter, Y Robitaille, E Andermann, C Melmed, G Karpati

Annals of Neurology | LITTLE BROWN CO | Published : 1991

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. Copyright © 1991 American Neurological Association

University of Melbourne Researchers