Becker muscular dystrophy with onset after 60 years
A Heald, LVB Anderson, KMD Bushby, PJ Shaw - Neurology, 1994 - neurology.org
A Heald, LVB Anderson, KMD Bushby, PJ Shaw
Neurology, 1994•neurology.orgWe report an unusual example of Becker muscular dystrophy in which the patient was
asymptomatic until his mid-60s, and diagnosis was not made until he was 67 years old. The
patient had the unusual deletion of exons 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 follow-up.
asymptomatic until his mid-60s, and diagnosis was not made until he was 67 years old. The
patient had the unusual deletion of exons 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 follow-up.
We report an unusual example of Becker muscular dystrophy in which the patient was asymptomatic until his mid-60s, and diagnosis was not made until he was 67 years old. The patient had the unusual deletion of exons 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 follow-up.
American Academy of Neurology