Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 17 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. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. PIGA gene 
    ... not have the genetic alteration. The proportion of abnormal blood cells in the body affects the severity of the signs and symptoms of PNH.Some of the PIGA gene variants alter the numbers or types of protein building blocks (amino acids) ...
    https://medlineplus.gov/genetics/gene/piga - Genetics
  9. 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
  10. SDHB gene 
    ... activity. Lack of SDH enzyme activity results in abnormal hypoxia signaling and formation of tumors. ... succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial precursor ...
    https://medlineplus.gov/genetics/gene/sdhb - Genetics
previous · 1 · 2 · next