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Table 2 Overview of patients main clinical and genetic findings as well as treatment used (n = 11)

From: Long term treatment with ataluren—the Swedish experience

Patient ID

Age at onset

Corticosteroid treatment (Yes/No)/Type

Age at start of corticosteroid treatment (years)

Age at ataluren start (years)

Age at last follow-up (years)

Ambulation status at last follow-up

Age at loss of ambulation (years)

Cumulative use of ataluren (years)a

Age at discontinuation of ataluren (years)

Genotype

p1

4

Y/P

4

6.2

17.4

Non-ambulatory

12.9

8.3

NA

exon 19, p.Lys773*

p2

n.a

Y/P

4

14.4

26.5

Non-ambulatory

17.1

8.6

25.5

Exon 30, p.Gln1370*

p3

1.5

Y/P

4

5.2

17.3

Non-ambulatory

12.4

6.9

14.7

exon 52, p.Arg2553*

p4

1.5

Y/D

4

11.5

23.3

Non-ambulatory

13.5

6.3

20.5

Exon 39, p.L1834X

p5

1.5

Y/P

4.5

8.4

20.3

Non-ambulatory

18.1

9.4

NA

exon 35, p.R1666*

p6

n.a

Y/P

Preschoolb

10.3

16.2

Ambulatory

NA

5.9

NA

exon 20, p.Ser861*

p7

4

Y/D

5

10.2

16.0

Non-ambulatory

12.9

4.0

14.2

exon 58, p.Glu2886*

p8

2

Y/P

4.5

7.6

14.3

Ambulatory

NA

6.8

NA

exon 70, p.Arg3381*

p9

2

Y/P

3

8.8

14.0

Ambulatory

NA

5.3

NA

exon 33, p.Glu1540*

p10

1.5

Y/P

3

8.0

13.0

Non-ambulatory

8.5

5.0

NA

Exon 3, p.Leu1675X

p11

n.a

Y/P

3.5

6.9

12.2

Ambulatory

NA

5.3

NA

exon 70, p.Arg3381*

  1. Y Yes, P Prednisolone, D deflazacort, n.a. not available, NA Not Applicable
  2. a Cumulative use of ataluren before loss of ambulation or last follow-up if ambulatory (years)
  3. b At preschool age, exact date unknown
  4. *denotes the position of the premature stop codon