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Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy? Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA‐lysine gene of the mitochondrial DNA, mainly in the context of families with classic myoclonic epilepsy with ragged‐red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease. We report on two families harboring the 8344 mutation. The patients presented with MSL and myopathy, expressed as limb girdle weakness in index cases and as exercise intolerance in the others. All muscle biopsies performed showed lipid storage apart from RRF and respiratory chain complexes deficiency. A possible explanation for both adipose proliferation and lipid storage myopathy in these cases is a disturbance in intermediary lipid metabolism secondary to mitochondrial respiratory chain deficiency that could be related via carnitine deficiency. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 538–542, 2000. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Muscle and Nerve Wiley

Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

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References (33)

Publisher
Wiley
Copyright
Copyright © 2000 John Wiley & Sons, Inc.
ISSN
0148-639X
eISSN
1097-4598
DOI
10.1002/(SICI)1097-4598(200004)23:4<538::AID-MUS12>3.0.CO;2-T
Publisher site
See Article on Publisher Site

Abstract

Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA‐lysine gene of the mitochondrial DNA, mainly in the context of families with classic myoclonic epilepsy with ragged‐red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease. We report on two families harboring the 8344 mutation. The patients presented with MSL and myopathy, expressed as limb girdle weakness in index cases and as exercise intolerance in the others. All muscle biopsies performed showed lipid storage apart from RRF and respiratory chain complexes deficiency. A possible explanation for both adipose proliferation and lipid storage myopathy in these cases is a disturbance in intermediary lipid metabolism secondary to mitochondrial respiratory chain deficiency that could be related via carnitine deficiency. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 538–542, 2000.

Journal

Muscle and NerveWiley

Published: Apr 1, 2000

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