MERRF syndrome

Summary
Synonym
  • Fukuhara syndrome
  • Myoclonic epilepsy - ragged red fibers
  • Myoclonus epilepsy AND ragged red fibers
  • Myoclonus with epilepsy and with Ragged Red Fibers
Super Class
mitochondrial encephalomyopathy
External Links
Disease Ontology
DOID:310
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1203 CLN5 CLN5 intracellular trafficking protein
7957 EPM2A EPM2A glucan phosphatase, laforin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O75503 Bis(monoacylglycero)phosphate synthase CLN5

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024