Muscular Dystrophy, Congenital, Lmna-Related (MDCL)

Alias:
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy Due to Lmna Mutation
Lmna-Related Congenital Muscular Dystrophy
L-Cmd
Mdcl
Cmd
Mdc
Dystrophy, Muscular, Congenital, Lmna-Related
Congenital Muscular Dystrophy Lmna-Related
Muscular Dystrophy Congenital Lmna-Related
Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy
Dystrophy, Muscular, Congenital
Muscular Dystrophy, Congenital
Hereditary Muscular Dystrophy
Lmna-Related Cmd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Congenital, Lmna-Related, also known as congenital muscular dystrophy, is related to ullrich congenital muscular dystrophy 1 and congenital muscular dystrophy-dystroglycanopathy a14. An important gene associated with Muscular Dystrophy, Congenital, Lmna-Related is LMNA (Lamin A/C), and among its related pathways/superpathways are Extracellular matrix organization and O-linked glycosylation of mucins. The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related phenotypes are poor head control and axial muscle weakness
Related ID:
MESH:D009136
ICD11:396687076

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/1000000
97
810
11

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!
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