Mitochondrial Dna Depletion Syndrome 2 (MTDPS2)

Alias:
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Mtdps2
Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form
Mitochondrial Dna Depletion Syndrome 2 Myopathic Type
Mitochondrial Dna Depletion Myopathy, Tk2-Related
Tk2-Related Mitochondrial Dna Depletion Myopathy
Mitochondrial Dna Depletion Myopathy Tk2-Related
Myopathic Mitochondrial Dna Depletion Syndrome
Mitochondrial Dna Depletion Syndrome, Type 2
Mtdna Depletion Syndrome, Myopathic Form
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Dna Depletion Syndrome 2, also known as mitochondrial dna depletion syndrome, myopathic form, is related to mitochondrial dna depletion syndrome and tk2-related mitochondrial dna maintenance defect, myopathic form. An important gene associated with Mitochondrial Dna Depletion Syndrome 2 is TK2 (Thymidine Kinase 2), and among its related pathways/superpathways is Nucleotide salvage. Affiliated tissues include skeletal muscle and liver, and related phenotypes are myopathy and muscle weakness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
11
45
23

Medical Symptom

#
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
Year
IF
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