Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (MDDGC5)

Alias:
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
Lgmd2i
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency
Limb-Girdle Muscular Dystrophy Type 2i
Mddgc5
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular Dystrophy, Limb-Girdle, Type 2i
Lgmd Due to Fkrp Deficiency
Fkrp-Related Lgmd R9
Lgmd Type 2i
Lgmdr9
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5
Muscular Dystrophy-Dystroglycanopathy Type C 5
Dystrophy, Muscular, Dystroglycanopathy, Type C5
Muscular Dystrophy Limb-Girdle Type 2i
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy-Dystroglycanopathy , Type C, 5, also known as autosomal recessive limb-girdle muscular dystrophy type 2i, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and myositis, and has symptoms including muscle cramp, myalgia and waddling gait. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and O-linked glycosylation of mucins. The drugs Guaifenesin and Cathine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and tongue, and related phenotypes are elevated circulating creatine kinase concentration and muscular dystrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
1-9/100000
27
200
56

Medical Symptom

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

Gene & Mutation

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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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