Myopathy, X-Linked, with Excessive Autophagy (MEAX)

Alias:
X-Linked Myopathy with Excessive Autophagy
Xmea
Meax
Vacuolar Myopathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, X-Linked, with Excessive Autophagy, also known as x-linked myopathy with excessive autophagy, is related to danon disease and myopathy. An important gene associated with Myopathy, X-Linked, with Excessive Autophagy is VMA21 (Vacuolar ATPase Assembly Factor VMA21), and among its related pathways/superpathways are Selective autophagy and Autophagy. Affiliated tissues include skeletal muscle and heart, and related phenotypes are scoliosis and respiratory insufficiency
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
18
132
16

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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