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Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?
Author(s) -
MuñozMálaga Alfredo,
Bautista Juan,
Salazar Jose A.,
Aguilera Isabel,
Garcia Raul,
Chinchon Isidoro,
Segura M. Dolores,
Campos Yolanda,
Arenas Joaquin
Publication year - 2000
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(200004)23:4<538::aid-mus12>3.0.co;2-t
Subject(s) - myopathy , mitochondrial myopathy , context (archaeology) , endocrinology , lipomatosis , respiratory chain , myoclonic epilepsy , mitochondrial respiratory chain , medicine , biology , mitochondrial dna , mitochondrion , genetics , epilepsy , gene , paleontology , neuroscience
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.