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Myopathy, Mitochondrial, and Ataxia (MMYAT)

Alias:
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Mmyat
Mitochondrial Myopathy-Cerebellar Atrophy-Pigmentary Retinopathy Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Mitochondrial, and Ataxia, is also known as mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome. An important gene associated with Myopathy, Mitochondrial, and Ataxia is MSTO1 (Misato Mitochondrial Distribution And Morphology Regulator 1). Affiliated tissues include brain and bone, and related phenotypes are scoliosis and depression
Related ID：
MALACARDS：MYP149
OMIM：617675
MESH：D009468

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
3
8
MYP149

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

Title
PMID
Journal
Year
IF
No Data Found!
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