Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF

Peter A. Calabresi, Gabriella Silvestri, Salvatore DiMauro, Robert C. Griggs

Research output: Contribution to journalArticlepeer-review

Abstract

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 patien's father and may have been an unrelated autosomal defect rather than a paternally transmitted mitochondrial point mutation. © 1994 John Wiley & Sons, Inc.

Original languageEnglish (US)
Pages (from-to)943-945
Number of pages3
JournalMuscle & nerve
Volume17
Issue number8
DOIs
StatePublished - Aug 1994
Externally publishedYes

Keywords

  • MERRF
  • ataxia
  • lipomas
  • mitochondrial encephalomyopathy
  • point mutations

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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