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Results 1 - 10 of 31 for Abnormal mitochondrial number
  1. HADHA gene 
    ... and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of mitochondrial trifunctional protein deficiency. More About This Health Condition In a small number of cases, HADHA mutations appear to increase a ...
    https://medlineplus.gov/genetics/gene/hadha - Genetics
  2. Barth syndrome 
    ... type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria DNAJC19 defect MGA type 2 MGA type II ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  3. What Is Mitochondrial Disease? (United Mitochondrial Disease Foundation)  
    Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... United Mitochondrial Disease Foundation
    https://www.umdf.org/what-is-mitochondrial-disease-2 - External Health Links
  4. Mitochondrial DNA 
    ... LP, Schon EA, DiMauro S. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? J Clin Invest. 1993 Dec;92(6):2906-15. doi: ... JT, Copeland WC. Mitochondrial DNA in human malignancy. Mutat Res. 2001 May; ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  5. Myoclonic epilepsy with ragged-red fibers 
    ... LP, Schon EA, DiMauro S. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? J Clin Invest. 1993 Dec;92(6):2906-15. doi: ... point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  6. Definitions of Digestive Terms (International Foundation for Gastrointestinal Disorders)  
    Stomach Disorders/Reference Desk ... Stomach Disorders ... Digestive Diseases/Reference Desk ... Digestive Diseases ... International Foundation for Gastrointestinal Disorders
    https://iffgd.org/resources/medical-definitions-glossary-dictionary - External Health Links
  7. MT-TH gene 
    ... proteins that carry out oxidative phosphorylation. A small number of people with the features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) ...
    https://medlineplus.gov/genetics/gene/mt-th - Genetics
  8. Primary coenzyme Q10 deficiency 
    ... urine (hematuria), which can lead to a reduced number of red blood cells in the body (anemia), abnormal blood clotting, or reduced amounts of certain white ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  9. MT-TK gene 
    ... MERRF. They continue to investigate the effects of mitochondrial gene mutations in various tissues, particularly in the brain.A small number of people with a mutation in the MT- ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  10. 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
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