Sample | Age at Biopsy | Mutation | Diagnosis | Age at onset of symptoms (years) | Motor and cognitive function |
---|---|---|---|---|---|
CTRL_1 | 9y6m | ||||
CTRL_2 | 14y0m | ||||
CTRL_3 | 7y10m | ||||
BMD_1 | 7y7m | Mutation in intron 14 (C.1705-18 T > G) resulting in abberant splicing of exon 15 (predicted in frame) | BMD CK 1700 | 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 |
BMD_2 | 3y2m | Deletion exons 45–47 | BMD | Walks with a waddle. Can just about run but is unable to hop. Gets up with a modified Gower’s manoeuvre. | |
BMD_3 | 9y0m | Deletion exons 3–7 | BMD CK 4117 | 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. |
DMD_1 | 4y8m | Duplication of exons 5–7 | DMD, diagnosed at 2.5 for incidental finding of high CK (28,000) | 3.5 years | Steroids declined. Lost of ambulation age 8 years 10 months |
DMD_2 | 6y10m | Deletion of exons 6–44 (predicted in-frame) | DMD CK 25500 | 4 years, with peak of activity aged 6 and deterioration from age 7 | Lost ambulation aged 10; special education needs. On steroids |
DMD_3 | 3y3m | Hemizygous mutation, c.4517_4518delTG (p.Val1506fs) in exon 32 | DMD CK 15189 | 3 years | Behaviorual difficulties. Age 10 walks slowly for up to 30 min. |