Myopathy, Centronuclear, X-Linked (CNMX)

Alias:
X-Linked Myotubular Myopathy
Xlmtm
X-Linked Centronuclear Myopathy
Xlcnm
Cnmx
Mtm1
Centronuclear Myopathy X-Linked
Myotubular Myopathy, X-Linked
Myotubular Myopathy 1
Mtmx
Severe X-Linked Myotubular Myopathy
Myotubular Myopathy Type 1
Myotubular Myopathy
Xmtm
Mtm
Cnm
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Centronuclear, X-Linked, also known as x-linked myotubular myopathy, is related to charcot-marie-tooth disease and muscular disease. An important gene associated with Myopathy, Centronuclear, X-Linked is MTM1 (Myotubularin 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. The drugs Tamoxifen and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include eye and liver, and related phenotypes are low apgar score and type 1 fibers relatively smaller than type 2 fibers
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Antenatal
1-9/100000
38
303
150

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top