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Inheritance of mitochondrial disease

Passed on from mothers as sperm does not contribute cytoplasm
All children of affected females will inherit disease. No children of affected males will inherit disease


What type of diseases are mitochondrial diseases usually

Usually rare neurological diseases


Pattern of inheritance of mitochondrial diseases

Poor genotype to phenotype correlation - within a tissue or a cell there can be different mitochondrial populations - known as heteroplasmy


What is usually seen in muscle biopsy histology for mitochondrial diseases

Red ragged fibres - due to increased number of mitochondria


Features of x-linked recessive disease inheritance

Cannot get male to male transmission.
Only males can be affected - or females with turners syndrome XO
Children of female carriers (male and female) have 50% chance of being affected.
Children of affected males are either unaffected sons or carrier daughters.