MERRF syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

MERRF syndrome
ICD-10	G31.8
ICD-9	277.87
OMIM	545000
DiseasesDB	30794
MeSH	D017243

Overview

MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease.

Classification

Presentation

It involves the following characteristics:

• progressive myoclonic epilepsy
• clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged-red fibers" when muscle is stained with modified Gomori trichrome stain
• short stature

Causes

The MERRF syndrome is caused by a maternally-inherited mutation at position 8344 in the mitochondrial genome. This point mutation disrupts the mitochondrial gene for tRNA-Lys and so disrupts synthesis of proteins essential for oxidative phosphorylation.

Genes involved include MT-TK, MT-TL1, MT-TH, MT-TS1, MT-TS2, and MT-TF.

See also

• Epilepsy
• Myoclonus

External links

• MERRF+Syndrome at the US National Library of Medicine Medical Subject Headings (MeSH)
• Template:GPnotebook
• merrf at NIH/UW GeneTests