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

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

doi:10.1002/mus.880170815

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

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

Research output: Contribution to journal › Article › peer-review

45 Scopus citations

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 language	English (US)
Pages (from-to)	943-945
Number of pages	3
Journal	Muscle & nerve
Volume	17
Issue number	8
DOIs	https://doi.org/10.1002/mus.880170815
State	Published - Aug 1994
Externally published	Yes

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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10.1002/mus.880170815

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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. {\textcopyright} 1994 John Wiley & Sons, Inc.",

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AU - DiMauro, Salvatore

AU - Griggs, Robert C.

PY - 1994/8

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AB - 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.

KW - MERRF

KW - ataxia

KW - lipomas

KW - mitochondrial encephalomyopathy

KW - point mutations

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

Abstract

Keywords

ASJC Scopus subject areas

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