Catalog
Point mutations of mitochondrial DNA
No MMS code
Link to WHO Definition
Point mutations of mitochondrial DNA – http://id.who.int/icd/entity/743062346
This refers to a type of mutation that causes the replacement of a single base nucleotide with another nucleotide of the genetic material, DNA or RNA, of the DNA located in organelles called mitochondria, structures within eukaryotic cells that convert the chemical energy from food into a form that cells can use, adenosine triphosphate (ATP).
Parents
Children
- Leber hereditary optic neuropathy
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes
- Non-syndromic mitochondrial sensorineural deafness
- Myoclonic epilepsy, ragged red fibres
- 8C73.1 Neuropathy, ataxia, and retinitis pigmentosa
- Maternally inherited diabetes and deafness
- Maternally inherited mitochondrial cardiomyopathy
- Maternally inherited Leigh syndrome
- Maternally inherited mitochondrial dystonia
- Sporadic Leigh syndrome
- Maternally inherited mitochondrial myopathy