Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 (LGMDR2)

Alias:
Beta-Sarcoglycanopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y
Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
Lgmd2b
Muscular Dystrophy, Limb-Girdle, Type 2s
Muscular Dystrophy, Limb-Girdle, Type 3
Lgmdr2
Lgmd3
Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency
Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency
Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Dystrophy, Muscular, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2e
Muscular Dystrophy, Limb-Girdle, Type 2y
Limb-Girdle Muscular Dystrophy, Type 2e
Limb-Girdle Muscular Dystrophy 2b
Lgmd2e
Lgmd2s
Lgmd2y
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2, also known as beta-sarcoglycanopathy, is related to myopathy, autosomal recessive, with rigid spine and distal joint contractures and muscular dystrophy, limb-girdle, autosomal recessive 18, and has symptoms including ataxia, athetosis and muscle cramp. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 is DYSF (Dysferlin), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Acute viral myocarditis. The drugs Deflazacort and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and monocytes, and related phenotypes are skeletal muscle atrophy and elevated circulating creatine kinase concentration
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adolescent
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54
396
153

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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