Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF)

Myoclonic Epilepsy Associated with Ragged-Red Fibers(来自ICD-11)
别称:
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
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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
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参考文献
MALACARDS
Mit
Child
1-9/1000000
39
225
78

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