Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 (LGMDR1)

Alias:
Calpainopathy
Muscular Dystrophy, Limb-Girdle, Type 2a
Lgmd2a
Muscular Dystrophy, Limb-Girdle, Type 2
Limb-Girdle Muscular Dystrophy, Type 2e
Muscular Dystrophy, Pelvofemoral
Lgmdr1
Lgmd2
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Dystrophy, Muscular, Limb-Girdle, Recessive, Type 1
Muscular Dystrophy, Limb-Girdle, Type 2s
Limb-Girdle Muscular Dystrophy, Type 2s
Limb-Girdle Muscular Dystrophy Type 2a
Leyden-Moebious Muscular Dystrophy
Leyden-Moebius Muscular Dystrophy
Limb-Girdle Muscular Dystrophy 2a
Beta-Sarcoglycanopathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1, also known as calpainopathy, is related to muscular dystrophy, limb-girdle, autosomal recessive 6 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 1 is CAPN3 (Calpain 3), and among its related pathways/superpathways are Cell differentiation - expanded index and miRNA role in immune response in sepsis. Affiliated tissues include skeletal muscle and bone marrow, and related phenotypes are facial palsy and elevated circulating creatine kinase concentration
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
3
18
315

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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