Skip to main content

Table 2 Sample demographics

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

SampleAge at BiopsyMutationDiagnosisAge at onset of symptoms (years)Motor and cognitive function
CTRL_19y6m    
CTRL_214y0m    
CTRL_37y10m    
BMD_17y7mMutation 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 runningAutistic 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_23y2mDeletion exons 45–47BMD Walks with a waddle. Can just about run but is unable to hop. Gets up with a modified Gower’s manoeuvre.
BMD_39y0mDeletion exons 3–7BMD
CK 4117
Age 9 with a history of muscle weaknessProblems running and difficulty getting up off the floor. Unable to hop and has difficulty climbing stairs.
DMD_14y8mDuplication of exons 5–7DMD, diagnosed at 2.5 for incidental finding of high CK (28,000)3.5 yearsSteroids declined. Lost of ambulation age 8 years 10 months
DMD_26y10mDeletion of exons 6–44 (predicted in-frame)DMD
CK 25500
4 years, with peak of activity aged 6 and deterioration from age 7Lost ambulation aged 10; special education needs. On steroids
DMD_33y3mHemizygous mutation, c.4517_4518delTG (p.Val1506fs) in exon 32DMD
CK 15189
3 yearsBehaviorual difficulties. Age 10 walks slowly for up to 30 min.
  1. Demographics for all control and patient samples used in this study