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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
Related
mt-tRNA leucine-1 (MT-TL1)
General
gene mutation testing; gene mutation analysis
References
Loinc