Holme, E

Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. [electronic resource] - American journal of human genetics Mar 1993 - 551-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0002-9297


Adenine
Adolescent
Adult
Cells, Cultured
Child, Preschool
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 6
DNA, Mitochondrial--analysis
Female
Guanine
Heterozygote
Humans
Lipoma--genetics
MERRF Syndrome--genetics
Male
Mutation
Polymerase Chain Reaction--methods
RNA, Transfer, Lys--genetics
X Chromosome