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Results 21 - 30 of 37 for Mitochondrial depletion
  1. Infantile-onset spinocerebellar ataxia 
    ... Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  2. TWNK gene 
    ... mitochondrial DNA helicase twinkle Tests of TWNK PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; ... JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial ... complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23): ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  3. Degenerative Nerve Diseases (National Library of Medicine)  
    Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. ...
    https://medlineplus.gov/degenerativenervediseases.html - Health Topics
  4. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  5. Alpers-Huttenlocher syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A PubMed Chan SS, ... F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue ... abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48( ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  6. Liver Diseases (National Library of Medicine)  
    Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases: ...
    https://medlineplus.gov/liverdiseases.html - Health Topics
  7. Find a Neuromuscular Disease (Muscular Dystrophy Association)  
    Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...
    https://www.mda.org/disease/list - External Health Links
  8. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/...tochondrial_Disease_Fact_Sheet_March_2020.pdf - External Health Links
  9. Amish lethal microcephaly 
    ... Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl ...
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly - Genetics
  10. SLC25A19 gene 
    ... Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl ...
    https://medlineplus.gov/genetics/gene/slc25a19 - Genetics
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