Myofibrillar Myopathy (MFM)

Alias:
Myopathy, Myofibrillar, Desmin-Related
Mfm - [myofibrillar Myopathy]
Myopathy, Desmin Storage
Myofibrillar Myopathies
Myopathy, Myofibrillar
Myotilinopathy
Mfm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myofibrillar Myopathy, also known as myopathy, myofibrillar, desmin-related, is related to myopathy, myofibrillar, 9, with early respiratory failure and myopathy, myofibrillar, 6, and has symptoms including facial paresis An important gene associated with Myofibrillar Myopathy is LDB3 (LIM Domain Binding 3), and among its related pathways/superpathways are Cytoskeletal Signaling and Cellular response to heat stress. Affiliated tissues include heart and skeletal muscle, and related phenotypes are homeostasis/metabolism and muscle
Related ID:
MESH:C580316
ICD11:125656853

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Adult
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73
601
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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

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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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