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Results 1 - 10 of 12 for Multiple mitochondrial DNA deletions
  1. TWNK gene 
    ... Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  2. SLC25A4 gene 
    ... Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability ...
    https://medlineplus.gov/genetics/gene/slc25a4 - Genetics
  3. Progressive external ophthalmoplegia 
    ... Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  4. POLG gene 
    ... Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  5. RRM2B gene 
    ... RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. ... GS. RRM2B Mitochondrial DNA Maintenance Defects. 2014 Apr 17 [updated 2021 Jun ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  6. Mitochondrial DNA 
    ... at the back of the eye (retinopathy). The mitochondrial DNA deletions result in the loss of genes that produce ... or early childhood. The size and location of mitochondrial DNA deletions vary, usually ranging from 1,000 to 10, ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  7. Pearson syndrome 
    ... Hanna MG, Poulton J, Rahman S. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit ... homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 Dec 20;5(12): ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  8. Age-related hearing loss 
    ... DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. As people age, mtDNA accumulates damaging mutations, including deletions and other changes. This damage results from a ...
    https://medlineplus.gov/genetics/condition/age-related-hearing-loss - Genetics
  9. GeneReviews Glossary From the National Institutes of Health (National Center for Biotechnology Information)  
    Genetic Testing/Reference Desk ... Genetic Testing ... Newborn Screening/Reference Desk ... Newborn Screening ... National Center for Biotechnology Information ... From the National ...
    https://www.ncbi.nlm.nih.gov/books/NBK5191 - External Health Links
  10. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Birth Defects/Reference Desk ... Birth Defects ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic ...
    https://www.genome.gov/genetics-glossary - External Health Links
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