Muscular Dystrophy-Dystroglycanopathy , Type B, 6 (MDDGB6)

Muscular Dystrophy-Dystroglycanopathy , Type B, 6(来自ICD-11)

别称:

Muscular Dystrophy-Dystroglycanopathy Type B6

Mddgb6

Mdc1d

Muscular Dystrophy, Congenital, Type 1d

Congenital Muscular Dystrophy Type 1d

Muscular Dystrophy-Dystroglycanopathy Congenital with Impaired Intellectual Development B6

Dystrophy, Muscular, Dystroglycanopathy , Type B6

Muscular Dystrophy, Congenital, Large-Related

Congenital Muscular Dystrophy Large-Related

Muscular Dystrophy Large-Related

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Muscular Dystrophy-Dystroglycanopathy , Type B, 6, also known as muscular dystrophy-dystroglycanopathy type b6, is related to ablepharon-macrostomia syndrome and muscular dystrophy-dystroglycanopathy , type a, 1. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include skeletal muscle and brain, and related phenotypes are hypotonia and global developmental delay

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