Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

Alias:
Limb-Girdle Muscular Dystrophy Due to Calpain Deficiency
Primary Calpainopathy
Lgmd2a
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Limb-Girdle Muscular Dystrophy Type 2a
Calpain-3-Related Lgmd R1
Lgmd Type 2a
Muscular Dystrophy, Limb-Girdle, Type 2a
Leyden-Moebius Muscular Dystrophy
Pelvofemoral Muscular Dystrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a, also known as limb-girdle muscular dystrophy due to calpain deficiency, is related to muscular dystrophy, limb-girdle, autosomal recessive 1 and cardiomyopathy, familial hypertrophic, 1. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a is CAPN3 (Calpain 3), and among its related pathways/superpathways are Cardiac conduction and Extracellular matrix organization. Affiliated tissues include heart and skeletal muscle, and related phenotypes are generalized muscle weakness and hyperlordosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
1-9/1000000
35
292
178

Medical Symptom

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Gene & Mutation

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Disease Model

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References Literature

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