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Abnormality of the mitochondrion
- ... These genetic changes impair the normal function of mitochondria. Although mtDNA abnormalities underlie the digestive and neurological problems that are ...
- ... of complex I, which disrupts energy production within mitochondria. Although these abnormalities have the greatest impact on tissues that require ...
- ... of complex I, which disrupts energy production within mitochondria. Although these abnormalities have the greatest impact on tissues that require ...
- ... loss of this gene alters the structure of mitochondria; however, it is unclear how this abnormality is related to the signs and symptoms of ...
- ... developmental delay, eye defects, neurological problems, and blood abnormalities. The MMADHC gene variants that cause this condition result in the production of a protein that cannot transport vitamin B12 to either the mitochondria or the cytoplasm, which disrupts production of both ...
- ... in males and females with the disorder and abnormalities of the ovaries in affected ... speculate that impaired protein assembly disrupts mitochondrial ...
- ... hearing loss in affected males and females and abnormalities of the ovaries in ... speculate that impaired protein assembly disrupts mitochondrial ...
- ... Citation on PubMed Kanki T, Klionsky DJ. Mitochondrial abnormalities drive cell death in Wolfram syndrome 2. Cell Res. 2009 Aug;19(8):922-3. doi: 10.1038/cr.2009.94. No abstract available. Citation on PubMed or Free article on PubMed Central
- ... L-2-HGA). This condition causes severe brain abnormalities that become apparent in ... which disrupts energy production within cells. Through processes ...
- ... Björnstad syndrome, a condition characterized by a hair abnormality known ... up in mitochondria. The resulting decrease in complex III activity reduces ...