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 |