Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF.
A 66-year-old woman with hereditary deafness and multiple symmetric lipomas presented with ataxia, slight myopathy, and neuropathy. Molecular genetic analysis of mitochondrial DNA revealed the adenine to guanine transition at position 8344 in the tRNA gene for lysine that has been associated with the myoclonic epilepsy and ragged red fiber (MERRF) syndrome. The deafness was transmitted by the patient's father and may have been an unrelated autosomal defect rather than a paternally transmitted mitochondrial point mutation.
Calabresi
P A
PA
Department of Neurology, University of Rochester Medical Center, New York.
Silvestri
G
G
DiMauro
S
S
Griggs
R C
RC
D000368:Aged; D001259:Ataxia / Q000150:complications*; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D008067:Lipoma / Q000150:complications* / Q000235:genetics; D017243:MERRF Syndrome / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D012148:Restless Legs Syndrome / Q000150:complications*
D004272:DNA, Mitochondrial