Centronuclear Myopathy (CNM)

Alias:
Myopathy, Centronuclear
Cnm
Myotubular Myopathy
Congenital Structural Myopathy
Myopathy, Myotubular
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Centronuclear Myopathy, also known as myopathy, centronuclear, is related to myopathy, centronuclear, 1 and myopathy, centronuclear, 5, and has symptoms including muscle cramp, muscle rigidity and muscle spasticity. An important gene associated with Centronuclear Myopathy is DNM2 (Dynamin 2), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Cardiac conduction. The drugs Tamoxifen and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and heart, and related phenotypes are homeostasis/metabolism and muscle
Related ID:
MESH:D020914
ICD11:742097637

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Newborn
--
52
380
2

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
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IF
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