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light Syndrome mtDNA mutation
- ... associated with the percentage of mitochondria with the mtDNA mutation. Ballinger-Wallace syndrome Diabetes mellitus, type II, with deafness Maternally transmitted ...
- ... than a similar but more severe condition, Leigh syndrome, which affects about 1 in 40,000 people. NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the ...
- ... of related conditions, such as migraines, irritable bowel syndrome, or ... from mtDNA mutations from their mother. These disorders can appear in ...
- ... children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every ... Kearns-Sayre syndrome National Organization for Rare Disorders ( ...
- ... oxidative phosphorylation before the generation of ATP. The mtDNA mutations that cause this condition alter the proteins that ... important role in oxidative phosphorylation. The mitochondrial gene mutations that cause Leigh syndrome impair oxidative phosphorylation. Although the mechanism is unclear, ...
- ... all of the human chromosomes, and mitochondrial DNA (mtDNA). Also included is a richly illustrated genetics primer, Help Me Understand Genetics, which offers basic explanations of how genes work and how mutations cause disorders, as well as current information about ...
- ... problems with growth and development characteristic of Feingold syndrome type 2, it ... Retinoblastoma, a cancer of the light-sensing tissue at the back of the eye ( ...