Muscular Dystrophy-Dystroglycanopathy , Type B, 4 (MDDGB4)

Muscular Dystrophy-Dystroglycanopathy , Type B, 4(来自ICD-11)

别称:

Mddgb4

Muscular Dystrophy-Dystroglycanopathy , Type B4

Muscular Dystrophy-Dystroglycanopathy Type B4

Muscular Dystrophy-Dystroglycanopathy Congenital Without Impaired Intellectual Development B4

Dystrophy, Muscular, Dystroglycanopathy , Type B4

Muscular Dystrophy, Congenital, Fktn-Related

Congenital Muscular Dystrophy Fktn-Related

Muscular Dystrophy Congenital Fktn-Related

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Muscular Dystrophy-Dystroglycanopathy , Type B, 4, also known as mddgb4, is related to congenital muscular dystrophy-dystroglycanopathy a7 and congenital myopathy 10a, severe variant. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4 is FKTN (Fukutin), and among its related pathways/superpathways are O-linked glycosylation of mucins and Defective DPM3 causes DPM3-CDG. Affiliated tissues include brain, and related phenotypes are elevated circulating creatine kinase concentration and motor delay

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