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Results 1 - 8 of 8 for Abnormal mitochondrial number
  1. 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
  2. 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
  3. 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
  4. Perrault syndrome 
    ... gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including TWNK, CLPP, HARS2, and LARS2, function in cell structures called mitochondria, which convert the energy from food into a ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  5. TRNT1 deficiency 
    ... treatment in the lab with certain dyes. These abnormal cells are called ... characterized by low numbers of immune system cells called B cells, which ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  6. Pearson syndrome 
    ... fatigue. Some of these individuals also have low numbers of white blood cells ... Often, early blood cells (hematopoietic precursors) have multiple ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  7. Carbonic anhydrase VA deficiency 
    ... G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S. Mitochondrial carbonic anhydrase VA ... or Free article on PubMed Central
    https://medlineplus.gov/.../carbonic-anhydrase-va-deficiency - Genetics
  8. Alpers-Huttenlocher syndrome 
    ... the POLG gene often result in a reduced number of copies of mtDNA (mtDNA depletion), particularly in ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A PubMed ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics