Mitochondrial dysfunction in multiple symmetrical lipomatosis
SF Berkovic, F Andermann… - Annals of Neurology …, 1991 - Wiley Online Library
SF Berkovic, F Andermann, EA Shoubridge, S Carpenter, Y Robitaille, E Andermann…
Annals of Neurology: Official Journal of the American Neurological …, 1991•Wiley Online LibraryMultiple 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.
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.
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.
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