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Results 1 - 6 of 6 for Mitochondrial DNA Deletion Syndromes
  1. 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
  2. TIMM8A gene 
    ... abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome.Some people with DDON syndrome have large DNA deletions that remove the entire TIMM8A gene and one ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  3. MPV17 gene 
    ... have been found to cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, a condition characterized by liver disease and neurological ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
  4. TWNK gene 
    ... A, Jacobs HT, Zeviani M, Larsson C. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, ... Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple ... DNA: unraveling the pathogenesis of human mitochondrial DNA instability ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  5. POLG gene 
    ... 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
  6. PDHA1 gene 
    ... One group includes mutations that add or remove DNA building blocks (nucleotides) to the PDHA1 gene (called insertion and deletion mutations, respectively). These types of mutations occur more ...
    https://medlineplus.gov/genetics/gene/pdha1 - Genetics