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Results 1 - 10 of 21 for Depletion of mitochondrial DNA in muscle tissue
  1. TK2-related mitochondrial DNA depletion syndrome, myopathic form 
    TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal ...
    https://medlineplus.gov/...ial-dna-depletion-syndrome-myopathic-form - Genetics
  2. TK2 gene 
    ... gene have been found to cause TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS). TK2-MDS is an inherited condition that causes progressive muscle weakness (myopathy), typically beginning in early childhood. About ...
    https://medlineplus.gov/genetics/gene/tk2 - Genetics
  3. RRM2B gene 
    ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion ... muscle weakness (encephalomyopathy) and a problem with kidney function ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  4. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    ... neurological problems, which can include developmental delay, weak muscle tone (hypotonia), and reduced sensation in the limbs (peripheral neuropathy). Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically survive only into infancy or early ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  5. Deoxyguanosine kinase deficiency 
    ... in the amount of mtDNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to the brain, liver, and muscle dysfunction associated with deoxyguanosine kinase deficiency. DGUOK This ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  6. SUCLA2-related mitochondrial DNA depletion syndrome 
    SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Affected infants typically develop weak muscle tone (hypotonia) in the first few months of life. In these infants, hypotonia can delay the development of ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  7. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    FBXL4-related encephalomyopathic ... mtDNA depletion syndrome have weak muscle tone (hypotonia) and a failure to ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  8. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    RRM2B-related mitochondrial DNA ... also have a kidney dysfunction known as renal tubulopathy.Infants with RRM2B-MDS ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics
  9. SUCLG1-related mitochondrial DNA depletion syndrome 
    SUCLG1-related mitochondrial DNA ... mtDNA depletion syndrome often have weak muscle tone (hypotonia). They typically have ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  10. TWNK gene 
    ... few families, TWNK gene mutations lead to mtDNA depletion syndrome, hepatocerebral form. People with this condition ... PubMed MITOCHONDRIAL DNA ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
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