Mitochondrial TRNM gene
The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Jones CN et al. (2008) A disease-causing point mutation in human mitochondrial tRNAMet rsults in tRNA misfolding leading to defects in translational initiation and elongation.
Vissing J et al. (1998) A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance.
NCBI 4569 [^]
Omim 590065 [^]
Update: April 29, 2019