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

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.

• Authors: J Gámez, A Playán, A L Andreu, C Bruno, C Navarro, C Cervera, M A Arbós, S Schwartz, J A Enriquez, J Montoya
• Journal: Neurology (Neurology) Vol. 51 Issue 1 Pg. 258-60 (Jul 1998) ISSN: 0028-3878 [Print] United States
• PMID: 9674814 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Lys

Topics

• Adult
• Biopsy
• DNA, Mitochondrial (analysis, genetics)
• Family Health
• Female
• Humans
• Lipomatosis, Multiple Symmetrical (genetics, pathology)
• Male
• Muscle, Skeletal (pathology)
• Pedigree
• Point Mutation
• Polymerase Chain Reaction
• RNA, Transfer, Lys (genetics)