Isolated Mitochondrial Myopathy

Alias:
Autosomal Dominant Mitochondrial Myopathy with Exercise Intolerance
Mitochondrial Myopathy, Isolated
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Isolated Mitochondrial Myopathy, also known as autosomal dominant mitochondrial myopathy with exercise intolerance, is related to myopathy, isolated mitochondrial, autosomal dominant and myopathy, and has symptoms including facial paresis An important gene associated with Isolated Mitochondrial Myopathy is CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10). Related phenotypes are short stature and proximal muscle weakness in lower limbs
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
1
13
22

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
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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
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IF
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