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Myopathy, Scapulohumeroperoneal (SHPM)

Alias:
Progressive Scapulohumeroperoneal Distal Myopathy
Shpm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Scapulohumeroperoneal, is also known as progressive scapulohumeroperoneal distal myopathy. An important gene associated with Myopathy, Scapulohumeroperoneal is ACTA1 (Actin Alpha 1, Skeletal Muscle). Affiliated tissues include skeletal muscle, and related phenotypes are increased connective tissue and neck flexor weakness
Related ID：
MALACARDS：MYP114
OMIM：616852
MESH：D009135

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
1
4
14
MYP114

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!
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