• gene
  • Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. (nih.gov)
  • dysfunction
  • Additionally, although physical signs of chronic liver dysfunction may not be present, many people suffer liver impairment leading to liver failure. (wikipedia.org)
  • years
  • A 73 year old man presented with a history of diffuse muscular pain and progressive gait disturbance over two years. (bmj.com)