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Inheritance of mtDNA mutations
Mutations can be present in all, or just some copies of mtDNA
No mutation
0% mutation
Homoplasmy
100% mutation
Heteroplasmy
mix of mutated and normal mtDNA
Severity of disease is determined by the ratio of mutated to non‐mutated mitochondrial DNA
Mutation Load
Mother
Mild clinical symptoms
Son
78% Died aged
7 years
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Short stature
Diabetes
Adrenal failure
Myopathy
Cardiac conduction defect with pacemaker
Deafness
Reproductive consequences
