Myopathy, Distal, with Rimmed Vacuoles (DMRV)

Alias:
Multisystem Proteinopathy 4
Dmrv
Msp4
Nonaka Myopathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Distal, with Rimmed Vacuoles, also known as multisystem proteinopathy 4, is related to nonaka myopathy and miyoshi muscular dystrophy. An important gene associated with Myopathy, Distal, with Rimmed Vacuoles is SQSTM1 (Sequestosome 1). Affiliated tissues include skeletal muscle, and related phenotypes are emg: myopathic abnormalities and babinski sign
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
22
3

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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Status
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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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