| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Zhe Lyu, Tuva Åsatun Solheim, Nanna Scharff Poulsen, Anne-Sofie Vibæk Eisum, Gry Hatting Beha, Freja Fornander, Annarita Ghosh Andersen, Nanna Witting, John Vissin. Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1-related rhabdomyolysis or myalgia. Muscle & nerve. 2024-07-24. PMID:39045890. |
two of the milder phenotypes associated with dominant pathogenic variants in ryr1 are rhabdomyolysis and myalgia. |
2024-07-24 |
2024-07-26 |
Not clear |
| Lacey K Greer, Katherine G Meilleur, Brandon K Harvey, Emily S Wire. Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells. Orphanet journal of rare diseases. vol 17. issue 1. 2022-06-13. PMID:35698232. |
ryanodine receptor type-1 (ryr1) is a calcium release channel located in the sr. mutations to the ryr1 gene can compromise calcium homeostasis leading to a vast range of clinical phenotypes encompassing hypotonia, myalgia, respiratory insufficiency, ophthalmoplegia, fatigue and malignant hyperthermia (mh). |
2022-06-13 |
2023-08-14 |
Not clear |
| Tokunbor A Lawal, Joshua J Todd, Jessica W Witherspoon, Carsten G Bönnemann, James J Dowling, Susan L Hamilton, Katherine G Meilleur, Robert T Dirkse. Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. Skeletal muscle. vol 10. issue 1. 2021-10-04. PMID:33190635. |
as additional phenotypes were associated with ryr1 variations (including king-denborough syndrome, exercise-induced rhabdomyolysis, lethal multiple pterygium syndrome, adult-onset distal myopathy, atypical periodic paralysis with or without myalgia, mild calf-predominant myopathy, and dusty core disease) the overlap among diagnostic categories is ever increasing. |
2021-10-04 |
2023-08-13 |
Not clear |
| N Witting, P Laforêt, N C Voermans, N Roux-Buisson, F Bompaire, J Rendu, M Duno, F Feillet, E-J Kamsteeg, N S Poulsen, J R Dahlqvist, N B Romero, J Fauré, J Vissing, A Behi. Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. Acta neurologica Scandinavica. vol 137. issue 5. 2018-08-21. PMID:29635721. |
rhabdomyolysis and myalgia are common conditions, and mutation in the ryanodine receptor 1 gene (ryr1) is suggested to be a common cause. |
2018-08-21 |
2023-08-13 |
Not clear |
| N Dlamini, N C Voermans, S Lillis, K Stewart, E-J Kamsteeg, G Drost, R Quinlivan, M Snoeck, F Norwood, A Radunovic, V Straub, M Roberts, A F J E Vrancken, W L van der Pol, R I F M de Coo, A Y Manzur, S Yau, S Abbs, A King, M Lammens, P M Hopkins, S Mohammed, S Treves, F Muntoni, E Wraige, M R Davis, B van Engelen, H Jungblut. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscular disorders : NMD. vol 23. issue 7. 2014-02-13. PMID:23628358. |
we sequenced ryr1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia, frequent presentations in the neuromuscular clinic that often remain unexplained despite extensive investigations. |
2014-02-13 |
2023-08-12 |
Not clear |
| N Dlamini, N C Voermans, S Lillis, K Stewart, E-J Kamsteeg, G Drost, R Quinlivan, M Snoeck, F Norwood, A Radunovic, V Straub, M Roberts, A F J E Vrancken, W L van der Pol, R I F M de Coo, A Y Manzur, S Yau, S Abbs, A King, M Lammens, P M Hopkins, S Mohammed, S Treves, F Muntoni, E Wraige, M R Davis, B van Engelen, H Jungblut. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscular disorders : NMD. vol 23. issue 7. 2014-02-13. PMID:23628358. |
mutations in ryr1 are a common cause of exertional myalgia and rhabdomyolysis. |
2014-02-13 |
2023-08-12 |
Not clear |
| N Dlamini, N C Voermans, S Lillis, K Stewart, E-J Kamsteeg, G Drost, R Quinlivan, M Snoeck, F Norwood, A Radunovic, V Straub, M Roberts, A F J E Vrancken, W L van der Pol, R I F M de Coo, A Y Manzur, S Yau, S Abbs, A King, M Lammens, P M Hopkins, S Mohammed, S Treves, F Muntoni, E Wraige, M R Davis, B van Engelen, H Jungblut. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscular disorders : NMD. vol 23. issue 7. 2014-02-13. PMID:23628358. |
these findings suggest that ryr1 mutations may account for a substantial proportion of patients presenting with unexplained rhabdomyolysis and/or exertional myalgia. |
2014-02-13 |
2023-08-12 |
Not clear |