Mitochondrial dysfunction in multiple symmetrical lipomatosis.

Berkovic, S F; Andermann, F; Shoubridge, E A; Carpenter, S; Robitaille, Y; Andermann, E; Melmed, C; Karpati, G · Ann Neurol · 1991

case_report · Level V

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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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