Table 1.
Clinical and Molecular Data
| Patient, sex | Family history | Age at onset (years) | Age at biopsy (years) | CK at biopsy (U/L) | Muscle pathology severity | Clinical grade at biopsy | Clinical grade at last exam | Nucleotide change | Amino acid change | Exon | Zygosity | Mutation type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1, M | − | 17 | 29 | 1603 | Active | Severe | Severe (46) | G1469A | R490Q | 11 | Homoz. | Missense |
| 2, F | + | 28 | 30 | 783 | Active | Moderate | Severe (36) | G1469A | R490Q | 11 | Homoz. | Missense |
| 3, M* | + | 37 | 43 | 4348 | Mild | Mild | Mild (49) | G1469A | R490Q | 11 | Homoz. | Missense |
| 4, M* | + | 10 | 10 | 5960 | Mild | Asymptom | Moderate (26) | G1469A | R490Q | 11 | Homoz. | Missense |
| 5, M | − | 11 | 16 | 3200 | Mild | Asymptom. | − | G1469A | R490Q | 11 | Heteroz. | Missense |
| G1466A | R489Q | 11 | Heteroz. | Missense | ||||||||
| 6, M | − | 20 | 20 | 5200 | Moderate | Mild | Mild (26) | 550 del. A | − | 4 | Heteroz. | Frame-shift |
| G1469A | R490Q | 11 | Heteroz. | Missense | ||||||||
| 7, M | − | 11 | 18 | 2500 | Moderate | Moderate | Moderate/severe (25) | 550 del. A | − | 4 | Heteroz. | Frame-shift |
| C1468T | R490W | 11 | Heteroz. | Missense | ||||||||
| 8, M | − | 16 | 21 | 8600 | Moderate | Mild | Moderate (30) | C1468T# | R490W | 11 | Heteroz. | Missense |
*, second-degree cousins;
Age of patient at last clinical follow-up is indicated in parentheses,
#, only one mutant allele was found.
asymptom., asymptomatic, homoz., homozygous; heteroz., heterozygous