Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF)

Alias:
Merrf Syndrome
Merrf
Fukuhara Syndrome
Myoclonus Epilepsy Associated with Ragged-Red Fibres
Myoclonic Epilepsy with Ragged-Red Fibers
Myoclonic Epilepsy Associated with Ragged Red Fibers
Myoclonus with Epilepsy and with Ragged Red Fibers
Myoclonus with Epilepsy with Ragged Red Fibers
Myoencephalopathy Ragged-Red Fiber Disease
Myoclonus Epilepsy and Ragged Red Fibers
Myoclonic Epilepsy - Ragged Red Fibers
Fukuhara Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myoclonic Epilepsy Associated with Ragged-Red Fibers, also known as merrf syndrome, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and mitochondrial myopathy. An important gene associated with Myoclonic Epilepsy Associated with Ragged-Red Fibers is MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Complex I biogenesis. Affiliated tissues include eye and heart, and related phenotypes are ataxia and sensorineural hearing impairment
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Mit
Child
1-9/1000000
39
224
78

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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