Mitochondrial DNA mutation syndromes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Mitochondrial DNA mutation syndromes. Kearns Sayre syndrome (KSS), Pearson's syndrome. Fully referenced neurology checklist.
DNA oxidative phosphorylation (OXPHOS) mutation syndromes
- Kearns Sayre syndrome (KSS)
- Pearson's syndrome
- Progressive external ophthalmoplegia (PEO)
- MELAS
- Neuropathy, ataxia and retinitis pigmentosa (NARP)
- Leber’s hereditary optic neuropathy (LHON)
- Hearing loss-ataxia-myoclonus
- Non-syndromic and aminoglycoside-induced hearing loss
- Maternally inherited diabetes and deafness (MIDD)
Multiple mtDNA deletions (POLG gene mutations)
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Mitochondrial DNA depletion syndromes
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Other mitochondrial DNA mutation syndromes
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Mitochondrial nuclear OXPHOS mutation syndromes
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Acronym
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References
- Zeviani M, Di Donato S. Mitochondrial disorders. Brain 2004; 127:2153-2172.
- McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med 2009; 265:210-228.
- Oskoui M, Davidzon G, Pascual J, et al. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol 2006; 63:1122-1126.
- Rahman S, Hanna MG. Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. JNNP 2009; 80:943-953.
