Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive (EDMD3)

Alias:
Edmd3
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive
Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive
Emery-Dreifuss Muscular Dystrophy 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive, also known as edmd3, is related to familial partial lipodystrophy and limb-girdle muscular dystrophy, and has symptoms including torticollis An important gene associated with Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive is LMNA (Lamin A/C), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. Affiliated tissues include skeletal muscle and heart, and related phenotypes are joint stiffness and myopathy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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13
112
7

Medical Symptom

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Description
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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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