Myopathy with Extrapyramidal Signs (MPXPS)

Alias:
Proximal Myopathy with Extrapyramidal Signs
Mpxps
Myopathy, with Extrapyramidal Signs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy with Extrapyramidal Signs, also known as proximal myopathy with extrapyramidal signs, is related to muscular dystrophy, limb-girdle, autosomal recessive 1 and dysferlinopathy, and has symptoms including tremor and involuntary movements. An important gene associated with Myopathy with Extrapyramidal Signs is MICU1 (Mitochondrial Calcium Uptake 1), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Mitochondrial calcium ion transport. Affiliated tissues include eye and brain, and related phenotypes are chorea and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
18
136
6

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

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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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