Muscular Dystrophy-Dystroglycanopathy , Type B, 14 (MDDGB14)

Muscular Dystrophy-Dystroglycanopathy , Type B, 14(来自ICD-11)

别称:

Mddgb14

Muscular Dystrophy-Dystroglycanopathy , Type B14

Muscular Dystrophy-Dystroglycanopathy Type B14

Congenital Muscular Dystrophy Gmppb-Related

Muscular Dystrophy-Dystroglycanopathy Congenital with Impaired Intellectual Development B14

Dystrophy, Muscular, Dystroglycanopathy , Type B14

Muscular Dystrophy, Congenital, Gmppb-Related

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Muscular Dystrophy-Dystroglycanopathy , Type B, 14, also known as mddgb14, is related to muscular dystrophy-dystroglycanopathy , type a, 14 and muscular dystrophy-dystroglycanopathy, and has symptoms including generalized muscle wasting An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14 is GMPPB (GDP-Mannose Pyrophosphorylase B), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Diseases of glycosylation. Related phenotypes are intellectual disability and muscle weakness

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