Myopathy, Centronuclear, 4 (CNM4)

Alias:
Cnm4
Congenital Myopathy with Internal Nuclei and Atypical Cores
Centronuclear Myopathy 4
Myopathy, Centronuclear, Type 4
Centronuclear Myopathy Type 4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Centronuclear, 4, also known as cnm4, is related to congenital muscular dystrophy-dystroglycanopathy a14 and congenital myopathy 4a, and has symptoms including myalgia An important gene associated with Myopathy, Centronuclear, 4 is CCDC78 (Coiled-Coil Domain Containing 78), and among its related pathways/superpathways is Glycosylation and related congenital defects. Affiliated tissues include skeletal muscle, and related phenotypes are muscle weakness and exercise intolerance
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
11
55
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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Mutations
No data available

Related Drugs

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CAS Number
Status
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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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