Skip to main content

Table 1 RYR1 protein level and clinical severity

From: Genotype-phenotype correlations in recessive RYR1-related myopathies

Patient identifier

RyR1 protein level (% of normal)

Severity rating

Mild 0-4

21

40+/−6

0

167

44

1

178

44+/−4

1

S

55

1

168

16

2

37

51+/−7

3

54

22+/−12

4

Severe 5-8

179

14+/−3

5

55

15+/−8

6

123

10

6

132

38+/−4

7

109

58+/−3

8

  1. RyR1 protein levels are presented as % of normal +/− standard error of the mean. Clinical severity scores of 0–4 were considered mild, while scores of 5–8 were considered severe based on the criteria listed in Additional file 3: Table S3.
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172