Spinocerebellar Ataxia 28 (SCA28)

Alias:
Spinocerebellar Ataxia Type 28
Sca28
Ataxia, Spinocerebellar, Type 28
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia 28, also known as spinocerebellar ataxia type 28, is related to ocular motility disease and spastic ataxia, and has symptoms including muscle spasticity and gait ataxia. An important gene associated with Spinocerebellar Ataxia 28 is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2), and among its related pathways/superpathways is Mitochondrial calcium ion transport. Affiliated tissues include spinal cord and eye, and related phenotypes are dysarthria and gait ataxia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
16
71
30

Medical Symptom

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Description
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No data available

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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