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

Peter Calabresi, G. Silvestri, S. DiMauro, R. C. Griggs

Research output: Contribution to journalArticle

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 patient's father and may have been an unrelated autosomal defect rather than a paternally transmitted mitochondrial point mutation.

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

Fingerprint

MERRF Syndrome
Lipoma
Deafness
Ataxia
Guanine
Muscular Diseases
Adenine
Transfer RNA
Mitochondrial DNA
Point Mutation
Fathers
Lysine
Molecular Biology
Genes

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Ekbom's syndrome : Lipomas, ataxia, and neuropathy with MERRF. / Calabresi, Peter; Silvestri, G.; DiMauro, S.; Griggs, R. C.

In: Muscle and Nerve, Vol. 17, No. 8, 1994, p. 943-945.

Research output: Contribution to journalArticle

Calabresi, Peter ; Silvestri, G. ; DiMauro, S. ; Griggs, R. C. / Ekbom's syndrome : Lipomas, ataxia, and neuropathy with MERRF. In: Muscle and Nerve. 1994 ; Vol. 17, No. 8. pp. 943-945.
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