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MERRF syndrome

MERRF syndrome ( Myoclonic Epilepsy with Ragged Red Fibers , myoclonic epilepsy with torn muscle fibers ) is a rare mitochondrial disease caused by mutations in the following genes: MTTK , MTTL1 , MTTH , MTTS1 , MTTS2 , MTTF. Symptoms of MERRF also occur with mutations in the MTND5 gene.

MERRF syndrome
Ragged red fibers in MELAS.jpg
Ripped Red Fibers Example
ICD-10G 31.8
ICD-10-KMand
ICD-9277.87
ICD-9-KM
OMIM545000
DiseasesDB30794
MeshD017243

Alternative names

  • Myoclonus epilepsy with torn red muscle fibers

Notes

  1. ↑ Monarch Disease Ontology release 2018-06-29sonu - 2018-06-29 - 2018.
    <a href=" https://wikidata.org/wiki/Track:Q55345445 "> </a>

Links

  • MERRF Syndrome - medbiol.ru
Source - https://ru.wikipedia.org/w/index.php?title=Sindrom_MERRF&oldid=99521341


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Clever Geek | 2019