Partial list of couplonopathies
| Protein | Skeletal muscle | Cardiac muscle | ||||
| Gene | Disease | References | Gene | Disease | References | |
| DHPR | CACNA1S | MHS5 | Monnier et al., 1997, 2002; Pirone et al., 2010; Toppin et al., 2010 | CACNA1C | Conduction and other diseases | Venetucci et al., 2012 |
| RyR | RYR1 | MHS1 | Durham et al., 2007; MacLennan and Zvaritch, 2011 | RYR2 | CPVT1, conventional | Durham et al., 2007; Priori and Chen, 2011; Venetucci et al., 2012 |
| EHS and ER | Capacchione and Muldoon, 2009 | CPVT1, unconventionale | Zhao et al., 2015 | |||
| CCD and related CMs | Durham et al., 2007; Dowling et al., 2014 | |||||
| Calsequestrin | CASQ1 | CAM | Rossi et al., 2014 | CASQ2 | CPVT2 | Faggioni and Knollmann, 2012 |
| Unknowna | Kraeva et al., 2013a | |||||
| Muscle weakness, MH-like EHSb | Paolini et al., 2007; Protasi et al., 2009; Canato et al., 2010; Olojo et al., 2011 | |||||
| Triadin | TRDN | Muscle weaknessb | Shen et al., 2007; Oddoux et al., 2009 | TRDN | CPVT5 | Roux-Buisson et al., 2012 |
| Junctin and Junctate | ASPH | -c | Divet et al., 2007 | ASPH | -b,c | Yuan et al., 2007; Hong et al., 2008 |
| JP-45 | JSRP1 | Muscle weaknessb,f | Gouadon et al., 2006; Yasuda et al., 2013 | -d | ||
| Protein | Skeletal muscle | Cardiac muscle | ||||
| Gene | Disease | References | Gene | Disease | References | |
| DHPR | CACNA1S | MHS5 | Monnier et al., 1997, 2002; Pirone et al., 2010; Toppin et al., 2010 | CACNA1C | Conduction and other diseases | Venetucci et al., 2012 |
| RyR | RYR1 | MHS1 | Durham et al., 2007; MacLennan and Zvaritch, 2011 | RYR2 | CPVT1, conventional | Durham et al., 2007; Priori and Chen, 2011; Venetucci et al., 2012 |
| EHS and ER | Capacchione and Muldoon, 2009 | CPVT1, unconventionale | Zhao et al., 2015 | |||
| CCD and related CMs | Durham et al., 2007; Dowling et al., 2014 | |||||
| Calsequestrin | CASQ1 | CAM | Rossi et al., 2014 | CASQ2 | CPVT2 | Faggioni and Knollmann, 2012 |
| Unknowna | Kraeva et al., 2013a | |||||
| Muscle weakness, MH-like EHSb | Paolini et al., 2007; Protasi et al., 2009; Canato et al., 2010; Olojo et al., 2011 | |||||
| Triadin | TRDN | Muscle weaknessb | Shen et al., 2007; Oddoux et al., 2009 | TRDN | CPVT5 | Roux-Buisson et al., 2012 |
| Junctin and Junctate | ASPH | -c | Divet et al., 2007 | ASPH | -b,c | Yuan et al., 2007; Hong et al., 2008 |
| JP-45 | JSRP1 | Muscle weaknessb,f | Gouadon et al., 2006; Yasuda et al., 2013 | -d | ||
Corresponding proteins of skeletal and cardiac muscle are listed on the same row. CAM, calsequestrin aggregate myopathy; CMs, congenital myopathies related to CCD (multiminicore disease, congenital myopathies with cores and rods, central nuclear myopathy, and congenital fiber type disproportion); EHS, exertional environmental heat stroke; ER, exertional rhabdomyolysis.
A Calsequestrin 1 variant is predicted to reduce SR Ca store but showed no disease phenotype in carriers.
Disease phenotype observed in null or knockout animals.
Not associated with a disease phenotype in humans. See references for studies on animal models.
JP-45 is not present in cardiac muscle (Zorzato, F., personal communication).
Unconventional for being accompanied by EADs instead of DADs.
JP-45 variants found in the Swiss MH population.