Publication | Open Access

A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

Mendelian DisorderGenetic DisorderRetinitis PigmentosaGeneticsLate-onset AtaxiaMolecular BiologyLeber Hereditary Optic NeuropathyDegenerative DiseaseMolecular GeneticsMitochondrial Trnapro GeneDisease Gene IdentificationMedicine