Muscular Dystrophy-Dystroglycanopathy , Type B, 2 (MDDGB2)

Alias:
Mddgb2
Muscular Dystrophy-Dystroglycanopathy , Type B2
Muscular Dystrophy-Dystroglycanopathy Type B2
Muscular Dystrophy-Dystroglycanopathy Congenital with Impaired Intellectual Development B2
Dystrophy, Muscular, Dystroglycanopathy , Type B2
Muscular Dystrophy, Congenital, Pomt2-Related
Congenital Muscular Dystrophy Pomt2-Related
Muscular Dystrophy Congenital Pomt2-Related
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy-Dystroglycanopathy , Type B, 2, also known as mddgb2, is related to congenital muscular dystrophy-dystroglycanopathy type a and muscular dystrophy-dystroglycanopathy , type a, 2, and has symptoms including facial paresis and generalized muscle weakness. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2 is POMT2 (Protein O-Mannosyltransferase 2), and among its related pathways/superpathways are Intraflagellar transport and Defective DPM3 causes DPM3-CDG. Affiliated tissues include brain and skeletal muscle, and related phenotypes are left ventricular hypertrophy and left ventricular systolic dysfunction
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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10
73
24

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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References Literature

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