Muscular Dystrophy-Dystroglycanopathy , Type C, 7 (MDDGC7)

Alias:

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u

Lgmd2u

Mddgc7

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20

Muscular Dystrophy, Limb-Girdle, Type 2u

Lgmdr20

Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Ispd Deficiency

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7

Dystrophy, Muscular, Dystroglycanopathy, Type C7

Muscular Dystrophy-Dystroglycanopathy Type C7

Ispd-Related Limb-Girdle Muscular Dystrophy R20

Muscular Dystrophy Limb-Girdle Type 2u

Limb-Girdle Muscular Dystrophy Type 2u

Ispd-Related Lgmd R20

Lgmd Type 2u

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Muscular Dystrophy-Dystroglycanopathy , Type C, 7, also known as autosomal recessive limb-girdle muscular dystrophy type 2u, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 7 is CRPPA (CDP-L-Ribitol Pyrophosphorylase A), and among its related pathways/superpathways are Defective DPM3 causes DPM3-CDG and Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1. Affiliated tissues include tongue and eye, and related phenotypes are limb-girdle muscle weakness and hypoglycosylation of alpha-dystroglycan

Related ID：

MALACARDS：MSC111

OMIM：616052

MESH：D049288