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

✍ Scribed by Dr. Peter A. Calabresi; Dr. Gabriella Silvestri; Dr. Salvatore DiMauro; Dr. Robert C. Griggs

Book ID: 102536659
Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 279 KB
Volume: 17
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.880170815

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✦ Synopsis

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.

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