Muscular Dystrophy, Congenital, 1b (MDC1B)

Alias:
Mdc1b
Congenital Muscular Dystrophy Type 1b
Congenital Muscular Dystrophy 1b
Cmd1b
Familial Dilated Cardiomyopathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Congenital, 1b, also known as mdc1b, is related to muscular dystrophy, congenital merosin-deficient, 1a and muscular dystrophy, congenital, lmna-related, and has symptoms including facial paresis An important gene associated with Muscular Dystrophy, Congenital, 1b is MDC1B (Muscular Dystrophy, Congenital, 1B), and among its related pathways/superpathways are Non-integrin membrane-ECM interactions and ECM proteoglycans. Related phenotypes are facial palsy and elevated circulating creatine kinase concentration

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
12
72
1

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
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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
Journal
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IF
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