Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA.
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.
Servei de Neurología, Hospital Vall d'Hebron, Barcelona, Spain.
J
J
Gámez
A
A
Playán
A L
AL
Andreu
C
C
Bruno
C
C
Navarro
C
C
Cervera
M A
MA
Arbós
S
S
Schwartz
J A
JA
Enriquez
J
J
Montoya
D000328:Adult; D001706:Biopsy; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008069:Lipomatosis, Multiple Symmetrical / Q000235:genetics* / Q000473:pathology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012357:RNA, Transfer, Lys / Q000235:genetics
D004272:DNA, Mitochondrial; D012357:RNA, Transfer, Lys