[1] MT-TL2 is a small 71 nucleotide RNA (human mitochondrial map position 12266-12336) that transfers the amino acid leucine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.
[5] In addition, multiple individuals with a T12297C substitution showed signs of cardiomyopathy accompanied with varying degrees.
Cytochrome c oxidase deficiency is a rare genetic condition that can affect multiple parts of the body, including skeletal muscles, the heart, the brain, or the liver.
Common clinical manifestations include myopathy, hypotonia, and encephalomyopathy, lactic acidosis, and hypertrophic cardiomyopathy.
[8] This article incorporates text from the United States National Library of Medicine, which is in the public domain.