cardiomyopathy and deafness due to tRNA lysine gene mutation
MONDO:0022648Mondo
Findings
No curated finding names cardiomyopathy and deafness due to tRNA lysine gene mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0022648), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of