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Abstract
We describe familial multiple symmetric lipomatosis in a pedigree harboring the 8344 mutation in the tRNALys gene of mitochondrial DNA(mtDNA). The proband showed neuromuscular involvement but lacked the typical manifestations of myoclonic epilepsy and ragged-red fibers disease. The distribution of the mutation was unusual because the proportion of mutated genomes was higher in blood and lipomas than in muscle tissue.
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