Congenital Muscular Dystrophy with Cerebellar Involvement

Alias:
Cmd with Cerebellar Involvement
Cmd-Crb
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Muscular Dystrophy with Cerebellar Involvement, also known as cmd with cerebellar involvement, is related to muscular dystrophy-dystroglycanopathy , type c, 14 and autosomal recessive limb-girdle muscular dystrophy type 2w. An important gene associated with Congenital Muscular Dystrophy with Cerebellar Involvement is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include brain and skeletal muscle, and related phenotypes are elevated circulating creatine kinase concentration and congenital muscular dystrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
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6
38
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Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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