Mitochondrial dysfunction in multiple symmetrical lipomatosis

S F Berkovic; F Andermann; E A Shoubridge; S Carpenter; Y Robitaille; E Andermann; C Melmed; G Karpati

doi:10.1002/ana.410290519

Mitochondrial dysfunction in multiple symmetrical lipomatosis

Ann Neurol. 1991 May;29(5):566-9. doi: 10.1002/ana.410290519.

Authors

S F Berkovic¹, F Andermann, E A Shoubridge, S Carpenter, Y Robitaille, E Andermann, C Melmed, G Karpati

Affiliation

¹ Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

PMID: 1650162
DOI: 10.1002/ana.410290519

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Atrophy
DNA, Mitochondrial / analysis
Electron Transport Complex IV / metabolism
Female
Humans
Lipomatosis, Multiple Symmetrical / enzymology
Lipomatosis, Multiple Symmetrical / genetics
Lipomatosis, Multiple Symmetrical / pathology*
Male
Middle Aged
Mitochondria / pathology*
Muscles / enzymology
Muscles / pathology*

Substances

DNA, Mitochondrial
Electron Transport Complex IV