Gene | Exercise-related increased CK | Exercise-related muscle damage | Other features/study sample | Type of exercise that triggered muscle symptoms | Differential diagnosis for well-known genetic causes of RM |
---|---|---|---|---|---|
ACE II>ID>DD72 | Yes | NK | Healthy young volunteers; CK assessed pre, 3, 24, 48, 72, 96, 120 and 168 hours postexercise | Strenuous eccentric contractions | NK |
ACTN3 R577X60 | NK | Previous history of severe ERM | Control group and affected patients did not perform the same amount of exercise | NK | A detailed list containing the investigated disorders in people with ERM was not provided. |
ACTN3 R577X73 | Yes | NK | Cortisol, testosterone, IL-6, α-actin and CK assessed pre, immediately after, 2 and 4 hours postexercise Professional athletes | Eccentric | NK |
CCL2 rs391787874 | Yes (women) | Attenuated strength recovery (men) | Blood samples from a previous clinical trial on topical non-steroidal anti-inflammatory CK assessed pre, 4, 7 and 10 days postexercise | Strenuous eccentric contractions | NK |
CCR2 rs3918358 rs179986574 | Likely | Slower recovery (women—rs3918358) and soreness (rs1799865) | Blood samples from a previous clinical trial on topical non-steroidal anti-inflammatory CK assessed pre, 4, 7 and 10 days postexercise | Strenuous eccentric contractions | NK |
MYLK 49 T75 | Yes | No | Blood samples from a previous clinical trial on topical non-steroidal anti-inflammatory CK assessed pre, 4, 7 and 10 days postexercise Higher baseline strength | Strenuous eccentric contractions | NK |
MYLK C37885A75 | Yes | Postexercise strength loss | Blood samples from a previous clinical trial on topical non-steroidal anti-inflammatory CK assessed pre, 4, 7 and 10 days postexercise | Strenuous eccentric contractions | NK |
MYLK C37885A60 | NK | Previous history of severe ERM | Control group and affected patients did not perform the same amount of exercise | NK | A detailed list containing the investigated disorders in people with ERM was not provided. |
CK-MM Ncol60 | NK | Previous history of severe ERM | Control group and affected patients did not perform the same amount of exercise | NK | A detailed list containing the investigated disorders in people with ERM was not provided. |
CK-MM Ncol76 | Yes | NK | Healthy volunteers (86% Caucasians); CK assessed immediately, 48 and 72 hours postexercise | Short duration (6 min), moderate intensity, mostly anaerobic exercise | NK |
IGF-II rs3213221 rs68077 | Yes | Strength loss and soreness | Blood samples from a previous clinical trial on topical non-steroidal anti-inflammatory CK assessed pre, 4, 7 and 10 days postexercise Women: no association | Strenuous eccentric contractions | NK |
IGF2AS A1364C77 | Yes | Strength loss and soreness | Blood samples from a previous clinical trial on topical non-steroidal anti-inflammatory CK assessed pre, 4, 7 and 10 days postexercise Women: no association | Strenuous eccentric contractions | NK |
IL-6 G174C CC>GC>GG78 | Yes | NK | Healthy young volunteers; CK assessed pre, 3, 24, 48, 72, 96, 120 and 168 hours postexercise | Strenuous eccentric contractions | NK |
TNFA G308A78 | Yes (GG) | NK | Healthy young volunteers; CK assessed pre, 3, 24, 48, 72, 96, 120 and 168 hours postexercise | Strenuous eccentric contractions | NK |
RYR152 79 | Inconsistent | Inconsistent | Susceptibility to MH; muscle weakness (CCD) |
CCD, central core disease; CK, creatine kinase; ERM, exertional rhabdomyolysis; IL, interleukin; NK, not known (not assessed or not described); RM, rhabdomyolysis; RYR1, type 1 ryanodine receptor.