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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

45 Citazioni (Scopus)

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. Copyright © 1994 John Wiley & Sons, Inc.
Lingua originaleEnglish
pagine (da-a)943-945
Numero di pagine3
RivistaMUSCLE & NERVE
Volume17
DOI
Stato di pubblicazionePubblicato - 1994

Keywords

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

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