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We report an unusual example of Becker muscular dystrophy in which the patient was asymptomatic until his mid 60's and diagnosis was not made until he was 67 years old.The patient had the unusual deletion of axons 3 to 9 within an actin-binding region of the dystrophin gene,removal or disruption of which is almost invariably associated with a more severe clinical phenotype.Our case illustrates the danger of drawing conclusions about possibly symptomatic deletions without lifelong followup. |
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