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Results 1 - 10 of 16 for Multiple mitochondrial DNA deletion syndrome
  1. Mitochondrial DNA 
    ... homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 Dec 20;5(12):e15687. ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  2. Kearns-Sayre Syndrome From the National Institutes of Health (National Center for Advancing Translational Sciences)  
    Find symptoms and other information about Kearns-sayre syndrome. ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Eye Diseases/Specifics ... Eye Diseases
    https://rarediseases.info.nih.gov/.../6817/kearns-sayre-syndrome - External Health Links
  3. Pearson syndrome 
    ... homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 Dec 20;5(12):e15687. ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  4. 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
  5. 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
  6. 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
  7. RRM2B gene 
    ... thought to underlie the signs and symptoms of mitochondrial DNA depletion syndrome. It is unclear why some RRM2B gene mutations result in deletions of genetic material from mtDNA (as in progressive ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  8. GeneReviews Glossary From the National Institutes of Health (National Center for Biotechnology Information)  
    Newborn Screening/Reference Desk ... Newborn Screening ... Genetic Testing/Reference Desk ... Genetic Testing ... National Center for Biotechnology Information ... From the National ...
    https://www.ncbi.nlm.nih.gov/books/NBK5191 - External Health Links
  9. X chromosome 
    ... K. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism ... 2007 Aug 6. Citation on PubMed
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  10. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic Testing/Reference Desk ... Genetic Testing ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy
    https://www.genome.gov/genetics-glossary - External Health Links
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