Myopathy, Myofibrillar, 6 (MFM6)

Alias:
Myofibrillar Myopathy 6
Myopathy, Myofibrillar, Bag3-Related
Mfm6
Myopathy, Myofibrillar, Type 6, Bag3-Related
Bag3-Related Myofibrillar Myopathy
Myopathy Myofibrillar Bag3-Related
Muscular Dystrophy, Selcen Type
Muscular Dystrophy Selcen Type
Mfm Bag3-Related
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Myofibrillar, 6, also known as myofibrillar myopathy 6, is related to cardiomyopathy, dilated, 1hh and myofibrillar myopathy, and has symptoms including facial paresis An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BAG Cochaperone 3), and among its related pathways/superpathways are Cellular response to heat stress and HSF1-dependent transactivation. Affiliated tissues include skeletal muscle and heart, and related phenotypes are respiratory insufficiency and elevated circulating creatine kinase concentration
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
11
71
36

Medical Symptom

#
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

Name
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
Year
IF
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