MERRF syndrome
| MERRF syndrome | |
| ICD-10 | G31.8 |
|---|---|
| ICD-9 | 277.87 |
| OMIM | 545000 |
| DiseasesDB | 30794 |
| MeSH | D017243 |
MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease.
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.[1]
See also
References
- ↑ "OMIM - MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF". Retrieved 2007-11-23.
External links
- MERRF+Syndrome at the US National Library of Medicine Medical Subject Headings (MeSH)
- Template:GPnotebook
- merrf at NIH/UW GeneTests
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