Muscular Dystrophy-Dystroglycanopathy , Type C, 4 (MDDGC4)

Alias:

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m

Lgmd2m

Mddgc4

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13

Muscular Dystrophy, Limb-Girdle, Type 2m

Lgmdr13

Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 4c

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4

Fukutin-Related Limb-Girdle Muscular Dystrophy R13

Muscular Dystrophy-Dystroglycanopathy Type C 4

Dystrophy, Muscular, Limb-Girdle, Type 2m

Limb-Girdle Muscular Dystrophy Type 2m

Autosomal Recessive Lgmd Type 2m

Fukutin-Related Lgmd R13

Lgmd Type 2m

Mdgd4c

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Muscular Dystrophy-Dystroglycanopathy , Type C, 4, also known as autosomal recessive limb-girdle muscular dystrophy type 2m, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and muscular dystrophy, becker type. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 4 is FKTN (Fukutin), and among its related pathways/superpathways are Diseases of glycosylation and O-linked glycosylation of mucins. Affiliated tissues include brain and skeletal muscle, and related phenotypes are talipes equinovarus and hypotonia

Related ID：

MALACARDS：MSC103

OMIM：611588

MESH：D049288