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; J Montoya

doi:10.1212/wnl.51.1.258

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

Neurology. 1998 Jul;51(1):258-60. doi: 10.1212/wnl.51.1.258.

Authors

J Gámez¹, A Playán, A L Andreu, C Bruno, C Navarro, C Cervera, M A Arbós, S Schwartz, J A Enriquez, J Montoya

Affiliation

¹ Servei de Neurología, Hospital Vall d'Hebron, Barcelona, Spain.

PMID: 9674814
DOI: 10.1212/wnl.51.1.258

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

DNA, Mitochondrial
RNA, Transfer, Lys