Becker muscular dystrophy with onset after 60 years.
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.
Heald
A
A
Division of Clinical Neurosciences, University of Newcastle-upon-Tyne, United Kingdom.
Anderson
L V
LV
Bushby
K M
KM
Shaw
P J
PJ
D017668:Age of Onset; D000368:Aged; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D016364:Reading Frames
D016189:Dystrophin