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Genetic and Rare Diseases Information Center (GARD)

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Cardiomyopathy and deafness due to tRNA lysine gene mutation


Other Names for this Disease

  • Cardiomyopathy and deafness due to MTTK gene mutation
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Overview

A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.[1]
Last updated: 2/9/2010

References

  1. MT-TK gene. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/gene=mttk. Accessed 2/9/2010.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cardiomyopathy and deafness due to tRNA lysine gene mutation. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Cardiomyopathy and deafness due to MTTK gene mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.