Mitochondrial Complex Ii Deficiency

Mitochondrial Complex Ii Deficiency(来自ICD-11)
别称:
Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency
Isolated Succinate-Coenzyme Q Reductase Deficiency
Isolated Succinate-Ubiquinone Reductase Deficiency
Isolated Succinate-Coq Reductase Deficiency
Isolated Succinate Dehydrogenase Deficiency
Succinate-Coenzyme Q Reductase Deficiency
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Basic Information
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Mitochondrial Complex Ii Deficiency, also known as isolated mitochondrial respiratory chain complex ii deficiency, is related to mitochondrial complex ii deficiency, nuclear type 1 and leigh syndrome, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Mitochondrial Complex Ii Deficiency is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and glycolysis (BioCyc). Affiliated tissues include liver and heart, and related phenotypes are spasticity and developmental regression
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相关ID:
MESH:C565375

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参考文献
MALACARDS
AR
Newborn
<1/1000000
23
84
65

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