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Family members had various combinations of sensorineural hearing loss, retinal pigmentary degeneration,migraine,hypothalamic hypogonadism,and mild myopathy.Only one member had a strokelike episode at the age of 46 years.This patient had the highest point mutation percentage.This report suggests that this point mutation may not be associated with stroke in all families and that whether patient develop stroke may depend on the percentage of mutant mitochondrial DNA and its tisse distribution. |
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