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Table 2 Sample demographics

From: A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

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.

  1. Demographics for all control and patient samples used in this study