Mitochondrial TRNV gene
The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
McFarland R et al. (2002) Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
Sacconi S et al. (2002) Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
Tiranti V et al. (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
Orphanet ID 267449 [^]
NCBI 4577 [^]
Omim 590105 [^]
Update: April 29, 2019