MERRF syndrome

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MERRF syndrome Classification and external resources
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.

Contents 1 Presentation 2 Causes 3 See also 4 References 5 External links

[edit] 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

[edit] 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]

[edit] See also

• Epilepsy
• Myoclonus

[edit] References

[edit] External links

• MeSH MERRF+Syndrome
• -214630359 at GPnotebook
• merrf at NIH/UW GeneTests

v • d • e Mitochondrial diseases Myopathies MELAS - MERRF - KSS - PEO Other DAD - Friedreich's ataxia - LHON - Leigh's - NARP - MNGIE - PCD - PDHA - Pearson syndrome