Mitochondrial DNA-Associated Leigh Syndrome and NARP
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Megan Ball
- David R Thorburn
- Shamima Rahman
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (15 available)
Genes See tests for all associated and related genes
Also known as: ATPase6, MTATP6, ATP6
Summary: mitochondrially encoded ATP synthase 6Also known as: COIII, MTCO3, COX3
Summary: mitochondrially encoded cytochrome c oxidase IIIAlso known as: MTND1, ND1
Summary: mitochondrially encoded NADH dehydrogenase 1Also known as: MTND2, ND2
Summary: mitochondrially encoded NADH dehydrogenase 2Also known as: MTND3, ND3
Summary: mitochondrially encoded NADH dehydrogenase 3Also known as: MTND4, ND4
Summary: mitochondrially encoded NADH dehydrogenase 4Also known as: MTND5, ND5
Summary: mitochondrially encoded NADH dehydrogenase 5Also known as: MTND6, ND6
Summary: mitochondrially encoded NADH dehydrogenase 6Also known as: MTTI, TRNI
Summary: mitochondrially encoded tRNA isoleucineAlso known as: MTTK, TRNK
Summary: mitochondrially encoded tRNA lysineAlso known as: MTTL1, TRNL1
Summary: mitochondrially encoded tRNA leucine 1 (UUA/G)Also known as: MTTL2, TRNL2
Summary: mitochondrially encoded tRNA leucine 2 (CUN)Also known as: MTTV, TRNV
Summary: mitochondrially encoded tRNA valineAlso known as: MTTW, TRNW
Summary: mitochondrially encoded tRNA tryptophan
- OMIM
- View MT-ATP6 variations in ClinVar
- View MT-CO3 variations in ClinVar
- View MT-ND1 variations in ClinVar
- View MT-ND2 variations in ClinVar
- View MT-ND3 variations in ClinVar
- View MT-ND4 variations in ClinVar
- View MT-ND5 variations in ClinVar
- View MT-ND6 variations in ClinVar
- View MT-TI variations in ClinVar
- View MT-TK variations in ClinVar
- View MT-TL1 variations in ClinVar
- View MT-TL2 variations in ClinVar
- View MT-TV variations in ClinVar
- View MT-TW variations in ClinVar
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