Table 1. Subjects' information.
Subject | Age* | Sex | PYGM genotype | PYGM mRNA (%) |
P1 | 44 | Male | p.R771PfsX33/p.R771PfsX33 | 40 |
P2 | 55 | Male | p.R771PfsX33/p.R771PfsX33 | 32 |
C1 | 43 | Male | wild type/wild type | 94 |
C2 | 46 | Male | wild type/wild type | 107 |
*Age at the time the skeletal muscle biopsy was collected. GenBank reference sequence was NP_005600.1. Expression values were calculated considering 100% the mean results obtained in the controls (C1, C2).