Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c (DMDA1)

Alias:
Gamma-Sarcoglycanopathy
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency
Lgmd2c
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lgmd Due to Gamma-Sarcoglycan Deficiency
Limb-Girdle Muscular Dystrophy Type 2c
Gamma-Sarcoglycan-Related Lgmd R5
Lgmd Type 2c
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1
Muscular Dystrophy, Limb-Girdle, Type 2c
Deficiency of Sarcoglycan Gamma
Maghrebian Myopathy
Scarmd
Dmda1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c, also known as gamma-sarcoglycanopathy, is related to myoglobinuria and muscular dystrophy, limb-girdle, autosomal recessive 1. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c is SGCG (Sarcoglycan Gamma), and among its related pathways/superpathways are Cardiac conduction and DREAM Repression and Dynorphin Expression. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include tongue and heart, and related phenotypes are macroglossia and elevated circulating creatine kinase concentration
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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
15
130
52

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
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Publications
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References Literature

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