Age at Biopsy
Age at onset of symptoms (years)
Motor and cognitive function
Mutation in intron 14 (C.1705-18 T > G) resulting in abberant splicing of exon 15 (predicted in frame)
Age 8 with tiredness on running
Autistic spectrum disorder
Aged 15 can walk for 30 min, but more slowly compare to his peers. He continues hower to remain ver active, for example at school plays football, badminton and basketball
Deletion exons 45–47
Walks with a waddle. Can just about run but is unable to hop. Gets up with a modified Gower’s manoeuvre.
Deletion exons 3–7
Age 9 with a history of muscle weakness
Problems running and difficulty getting up off the floor. Unable to hop and has difficulty climbing stairs.
Duplication of exons 5–7
DMD, diagnosed at 2.5 for incidental finding of high CK (28,000)
Steroids declined. Lost of ambulation age 8 years 10 months
Deletion of exons 6–44 (predicted in-frame)
4 years, with peak of activity aged 6 and deterioration from age 7
Lost ambulation aged 10; special education needs. On steroids
Hemizygous mutation, c.4517_4518delTG (p.Val1506fs) in exon 32
Behaviorual difficulties. Age 10 walks slowly for up to 30 min.