Miyoshi Muscular Dystrophy 1 (MMD1)

Alias:
Miyoshi Myopathy
Mmd1
Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive
Muscular Dystrophy Distal Late-Onset Autosomal Recessive
Distal Muscular Dystrophy, Miyoshi Type
Dystrophy, Muscular, Miyoshi Type 1
Miyoshi Muscular Dystrophy
Miyoshi Distal Myopathy
Miyoshi Myopathy 1
Mmd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Miyoshi Muscular Dystrophy 1, also known as miyoshi myopathy, is related to muscular dystrophy, becker type and kidney cancer, and has symptoms including decreased grip strength An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (Dysferlin), and among its related pathways/superpathways are miRNA role in immune response in sepsis and miRNAs involved in DNA damage response. The drugs Deflazacort and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and heart, and related phenotypes are proximal muscle weakness in lower limbs and pelvic girdle muscle weakness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
1-9/1000000
1
8
35

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
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IF
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