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.
Gámez
J
J
Servei de Neurología, Hospital Vall d'Hebron, Barcelona, Spain.
Playán
A
A
Andreu
A L
AL
Bruno
C
C
Navarro
C
C
Cervera
C
C
Arbós
M A
MA
Schwartz
S
S
Enriquez
J A
JA
Montoya
J
J
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