MT-TL1 gene mutation

Clinical significance

• defects in MT-TL1 are associated with
  • Leigh syndrome
  • maternally inherited diabetes & deafness
  • MELAS syndrome
  • myoclonic epilepsy with ragged-red fibers
  • progressive external ophthalmoplegia

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• mt-tRNA leucine-1 (MT-TL1)