Send to:

Choose Destination
See comment in PubMed Commons below
Muscle Nerve. 1994 Aug;17(8):943-5.

Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF.

Author information

  • 1Department of Neurology, University of Rochester Medical Center, New York.


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.

Comment in

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk