Myopathy, Myofibrillar, 5 (MFM5)

Alias:
Myofibrillar Myopathy 5
Mfm5
Myopathy, Myofibrillar, Filamin C-Related
Filaminopathy, Autosomal Dominant
Myopathy Myofibrillar Filamin C-Related
Flnc-Associated Myofibrillar Myopathy
Autosomal Dominant Filaminopathy
Filamin C-Related Filaminopathy
Myopathy, Myofibrillar, Type 5
Mfm Filamin C-Related
Muscle Filaminopathy
Filaminopathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Myofibrillar, 5, also known as myofibrillar myopathy 5, is related to myopathy, distal, 4 and cardiomyopathy, familial hypertrophic, 26, and has symptoms including waddling gait An important gene associated with Myopathy, Myofibrillar, 5 is FLNC (Filamin C), and among its related pathways/superpathways are Ebola virus infection in host and NPHP1 deletion syndrome. Affiliated tissues include skeletal muscle and heart, and related phenotypes are emg: myopathic abnormalities and proximal muscle weakness in lower limbs
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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22
151
39

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
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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