Mitochondrial Complex Iii Deficiency, Nuclear Type 4 (MC3DN4)

Alias:
Mitochondrial Complex Iii Deficiency Nuclear Type 4
Mc4dn3
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Mitochondrial Complex 4 Deficiency, Nuclear Type 3
Mc3dn4
Mitochondrial Complex Iv Deficiency, Nuclear, Type 3
Mitochondrial Complex Iv Deficiency Nuclear Type 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Complex Iii Deficiency, Nuclear Type 4, also known as mitochondrial complex iii deficiency nuclear type 4, is related to leigh syndrome, and has symptoms including ataxia, athetosis and abnormality of extrapyramidal motor function. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 4 is COX10 (Cytochrome C Oxidase Assembly Factor Heme A:Farnesyltransferase COX10). Affiliated tissues include eye and liver, and related phenotypes are hyperreflexia and failure to thrive
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
9
4

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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