Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 (LGMDR4)

Alias:

Lgmd2e

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Muscular Dystrophy, Limb-Girdle, Type 2e

Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency

Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4

Lgmd Due to Beta-Sarcoglycan Deficiency

Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycan-Related Lgmd R4

Beta-Sarcoglycanopathy

Lgmd Type 2e

Lgmdr4

Dystrophy, Muscular, Limb-Girdle, Type 2e

Limb-Girdle Muscular Dystrophy 2e

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4, also known as lgmd2e, is related to qualitative or quantitative defects of beta-sarcoglycan and muscular dystrophy, limb-girdle, autosomal recessive 1. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 is SGCB (Sarcoglycan Beta), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Acute viral myocarditis. Affiliated tissues include skeletal muscle and heart, and related phenotypes are delayed speech and language development and myopathy

Related ID：

MALACARDS：MSC176

OMIM：604286

MESH：D049288