Muscular Dystrophy-Dystroglycanopathy , Type C, 14 (MDDGC14)

Alias:
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
Lgmd2t
Mddgc14
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19
Muscular Dystrophy Limb-Girdle Type 2t
Lgmdr19
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14
Muscular Dystrophy-Dystroglycanopathy Type C14
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Dystrophy, Muscular, Limb-Girdle, Type 2t
Muscular Dystrophy, Limb-Girdle, Type 2t
Limb-Girdle Muscular Dystrophy Type 2t
Gmppb-Related Lgmd R19
Lgmd Type 2t
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy-Dystroglycanopathy , Type C, 14, also known as autosomal recessive limb-girdle muscular dystrophy type 2t, is related to congenital myasthenic syndrome and muscular dystrophy-dystroglycanopathy , type a, 14. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 14 is GMPPB (GDP-Mannose Pyrophosphorylase B), and among its related pathways/superpathways are Acute viral myocarditis and 13q12.12 copy number variation. Affiliated tissues include skeletal muscle, and related phenotypes are intellectual disability and seizure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
12
70
22

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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