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

J. Gámez, A. Playán, A. L. Andreu, C. Bruno, C. Navarro, C. Cervera, M. A. Arbós, S. Schwartz, J. A. Enriquez, Julio Montoya

Research output: Contribution to journalArticlepeer-review

Abstract

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 tissue.

Original languageEnglish
Pages (from-to)258-260
Number of pages3
JournalNeurology
Volume51
Issue number1
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Neuroscience(all)

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