Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d (DMDA2)

Alias:
Alpha-Sarcoglycanopathy
Lgmd2d
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Lgmd Due to Alpha-Sarcoglycan Deficiency
Limb-Girdle Muscular Dystrophy Type 2d
Alpha-Sarcoglycan-Related Lgmd R3
Lgmd Type 2d
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2
Muscular Dystrophy, Limb-Girdle, Type 2d
Primary Adhalinopathy
Dmda2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d, also known as alpha-sarcoglycanopathy, is related to muscular dystrophy, limb-girdle, autosomal recessive 3 and myoglobinuria. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d is SGCA (Sarcoglycan Alpha), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Acute viral myocarditis. Affiliated tissues include skeletal muscle and liver, and related phenotypes are hyperlordosis and elevated circulating creatine kinase concentration
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
22
210
70

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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