Muscular Dystrophy-Dystroglycanopathy , Type C, 9 (MDDGC9)

Alias:
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Lgmd2p
Mddgc9
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16
Lgmdr16
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9
Muscular Dystrophy-Dystroglycanopathy Type C9
Dystrophy, Muscular, Limb-Girdle, Type 2p
Muscular Dystrophy, Limb-Girdle, Type 2p
Limb-Girdle Muscular Dystrophy Type 2p
Muscular Dystrophy Limb-Girdle Type 2p
Alpha-Dystroglycan-Related Lgmd R16
Lgmd Type 2p
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy-Dystroglycanopathy , Type C, 9, also known as autosomal recessive limb-girdle muscular dystrophy type 2p, is related to muscular dystrophy-dystroglycanopathy , type c, 1 and muscular dystrophy, limb-girdle, type 1h. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 9 is DAG1 (Dystroglycan 1), and among its related pathways/superpathways are Acute viral myocarditis and 13q12.12 copy number variation. Affiliated tissues include brain and skeletal muscle, and related phenotypes are elevated circulating creatine kinase concentration and limb-girdle muscular dystrophy
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
8
32
10

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top