Mitochondrial TRNS2 gene
Mutations of the mitochondrial TRNS2 genes lead to maternally inherited diabetes with deafness..
Mansergh FC et al. (1999) Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.
Wong LJ et al. (2006) A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.
Lynn S et al. (1998) Mitochondrial diabetes: investigation and identification of a novel mutation.
Orphanet ID 167905 [^]
NCBI 4575 [^]
Omim 590085 [^]
Update: April 29, 2019