Mitochondrial Complex V Deficiency, Nuclear Type 4b (MC5DN4B)

Alias:
Mitochondrial Complex V Deficiency, Nuclear Type 4b, Encephalopathic Type
Mc5dn4b
Mitochondrial Complex V Deficiency, Encephalopathic, Atp5a1 Type
Mitochondrial Complex V Deficiency, Nuclear, Type 4
Mitochondrial Complex V Deficiency Nuclear Type 4b
Mitochondrial Complex V Deficiency, Nuclear Type 4
Mitochondrial Complex V Deficiency Nuclear Type 4
Mitochondrial Complex V Deficiency, Nuclear Type 4
Mitochondrial Complex V Deficiency Atp5a1 Type
Mitochondrial Complex V Deficiency Type 4
Mc5dn4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Complex V Deficiency, Nuclear Type 4b, also known as mc5dn4b, is related to mitochondrial complex iv deficiency, nuclear type 5 and mitochondrial complex v deficiency, nuclear type 5, and has symptoms including apnea An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 4b is ATP5F1A (ATP Synthase F1 Subunit Alpha). Affiliated tissues include pons and cerebellum, and related phenotypes are seizure and nystagmus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
4
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Medical Symptom

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Gene & Mutation

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References Literature

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