Glycogen Storage Disease Xiii (GSD13)

Alias:
Enolase-Beta Deficiency
Enolase 3 Deficiency
Gsd Xiii
Gsd13
Glycogen Storage Disease Due to Muscle Beta-Enolase Deficiency
Muscle-Specific Enolase-Beta Deficiency
Storage Disease, Glycogen, Type 13
Glycogen Storage Disease 13
Enolase Deficiency Type 3
Glycogenosis Type Xiii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Xiii, also known as enolase-beta deficiency, is related to glycogen storage disease due to muscle beta-enolase deficiency, and has symptoms including myalgia An important gene associated with Glycogen Storage Disease Xiii is ENO3 (Enolase 3). Related phenotypes are reduced muscle enolase activity and increased muscle glycogen content
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Basic Information

Inheritance
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Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
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1
3
4

Medical Symptom

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Gene & Mutation

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References Literature

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