FAMILIAL MULTIPLE SYMMETRICAL LIPOMATOSIS ASSOCIATED WITH THE A8344G MUTATION OF MITOCHONDRIAL-DNA

We describe familial multiple symmetric lipomatosis in a pedigree harb oring the 8344 mutation in the tRNA(Lys) gene of mitochondrial DNA (mt DNA). The proband showed neuromuscular involvement but lacked the typi cal 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 tiss ue.