Table 2.

Sample demographics

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.

Demographics for all control and patient samples used in this study