Mitochondrial Dna-Associated Leigh Syndrome (MILS)

Mitochondrial Dna-Associated Leigh Syndrome(来自ICD-11)
别称:
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy
Maternally-Inherited Leigh Disease
Mtdna-Associated Leigh Syndrome
Mils
Maternally Inherited Leigh Syndrome
Mils Syndrome
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Mitochondrial Dna-Associated Leigh Syndrome, also known as maternally-inherited infantile subacute necrotizing encephalopathy, is related to mitochondrial dna-associated leigh syndrome and narp and neuropathy, ataxia, and retinitis pigmentosa. An important gene associated with Mitochondrial Dna-Associated Leigh Syndrome is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Lenalidomide and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include kidney and heart, and related phenotypes are increased csf lactate and abnormality of krebs cycle metabolism
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