USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Mitochondrial diseases
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Mitochrondrial DNA codes for mitochondrial oxidative phosphorylation enzxmes.- Inheritance is only from mother to child
Leber hereditary optic neuropathy- Loss of retinal cells, which leads to central vision loss
Myoclonic epilepsy with ragged red fibers (MERRF)- Epilepsy, ataxia, peripheral neuropathy- Deterioration in cognitive ability- Sensorineural hearing loss and ocular dysfunction- Short stature- Cardiomyopathy- Muscle biopsy: ragged red fibers on Gomori trichrome staining due to the accumulation of mitochondria
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
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