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Article

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA

1 Jul 1998

Abstract excerpt

We describe familial multiple symmetric lipomatosis in a pedigree harboring the 8344 mutation in the tRNA(Lys) 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...

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PMID: 9674814
DOI: 10.1212/wnl.51.1.258

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