| Excerpt | Reference |
|---|
| "McArdle disease is reported in three generations of a consanguineous Druze family." | ( Sadeh, M; Sarova-Pinhas, I, 1989) |
| "McArdle's disease is defined as a lack of functional muscle glycogen phosphorylase." | ( Bartram, C; Beynon, RJ; Edwards, RH; Gibson, H; Hopkins, P; Phoenix, J; Toescu, V, 1995) |
| "McArdle's disease is an energy-dependent disorder of skeletal muscle caused by the inability to break down glycogen." | ( De Kerviler, E; Duboc, D; Eymard, B; Leroy-Willig, A; Syrota, A, 1996) |
| "Myophosphorylase deficiency is genetically heterogeneous even among patients living in a small region and with a common ethnic background." | ( Angelini, C; Bartoloni, L; Cadaldini, M; DiMauro, S; Fanin, M; Martinuzzi, A; Schievano, G; Shanske, S; Siciliano, G; Tsujino, S; Vergani, L, 1996) |
| "McArdle's disease is caused by genetic defects of the muscle-specific isozyme of glycogen phosphorylase, which block ATP formation from glycogen in skeletal muscle." | ( Vorgerd, M; Zange, J, 2007) |
| "McArdle's disease is a disabling condition affecting patients' QoL." | ( Barbiroli, B; Frare, M; Kemp, GJ; Liava, A; Lodi, R; Malucelli, E; Manners, D; Martinuzzi, A; Testa, C; Tonon, C; Trevisi, E, 2008) |
| "Patients with McArdle disease are unable to produce lactate in response to exercise and thus offer a unique model to assess the role of lactate in the EIGR." | ( Buckley, J; Godfrey, RJ; Quinlivan, R; Whyte, GP, 2009) |
| "McArdle disease is a glycogenetic myopathy caused by a deficit of myophosphorylase inherited in an autosomal recessive pattern." | ( Itoyama, Y; Izumi, R; Kato, K; Nakashima, I; Suzuki, N; Tateyama, M; Warita, H, 2010) |
| "McArdle disease is caused by deficiency of myophosphorylase, the muscle isoform of glycogen phosphorylase." | ( Mancuso, M; Orsucci, D; Siciliano, G; Volterrani, D, 2011) |
| "McArdle disease is caused by a deficiency of myophosphorylase and currently a satisfactory treatment is not available." | ( Creed, KE; Davies, L; Dunton, E; Howell, JM; Karpati, G; Quinlivan, R; Walker, KR, 2014) |
| "McArdle disease is arguably the paradigm of exercise intolerance in humans." | ( Brull, A; de Luna, N; Lucia, A; Nogales-Gadea, G; Pinós, T; Santalla, A; Ørtenblad, N, 2014) |
| "McArdle disease is a metabolic myopathy that can may lead to severe perioperative problems." | ( Alloza-Fortun, MC; Ayerza-Casas, V; Ferreira-Laso, L; Fraile-Jimenez, AE, 2015) |
| "McArdle disease is due to an absence of the enzyme muscle glycogen phosphorylase and results in significant physical impairment in humans." | ( Creed, KE; Dunton, E; Howell, JM; Quinlivan, R; Sewry, C, 2015) |
| "Indeed, McArdle disease is a paradigm of human exercise intolerance and PYGM genotyping should be included in the genetic analyses that might be applied in the coming personalized exercise medicine as well as in future research on genetics and exercise-related phenotypes." | ( Arenas, J; Coll-Cantí, J; Godfrey, R; Lucia, A; Martín, MA; Nogales-Gadea, G; Pinós, T; Pintos-Morell, G; Santalla, A, 2016) |
| "Patients with McArdle disease are exercise intolerant, as muscle glycogen-derived glucose is unavailable during exercise." | ( Brull, A; Krag, TO; Nielsen, TL; Pinós, T; Vissing, J, 2018) |
| "McArdle's disease is an inborn disorder of skeletal muscle glycogen metabolism that results in blockade of glycogen breakdown due to mutations in the myophosphorylase gene." | ( Andreu, AL; Arenas, J; Baladrón, C; Campo, R; Díez-Bermejo, J; Fiuza-Luces, C; Gálvez, BG; González-Murillo, Á; Llavero, F; López, JA; Lucia, A; Martín, MA; Nogales-Gadea, G; Pinós, T; Santos-Lozano, A; Vázquez, J; Zugaza, JL, 2018) |
| "McArdle disease is an inborn disorder of muscle glycogen metabolism that produces exercise intolerance, and has been recently associated with low values of lean mass (LM) and bone mineral content (BMC) and density (BMD) in affected adults." | ( Alegre, LM; Ara, I; Arenas, J; Díez-Bermejo, J; Lucía, A; Martín, MA; Munguía-Izquierdo, D; Nogales-Gadea, G; Rodríguez-Gómez, I; Santalla, A, 2018) |
| "McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase." | ( Almendrote, M; Ara, I; Arenas, J; Ballester-Lopez, A; Coenen, D; Coll-Cantí, J; de Castro, M; Koehorst, E; Linares-Pardo, I; Lucente, G; Lucia, A; Martín, MA; Martínez-Piñeiro, A; Nogales-Gadea, G; Núñez-Manchón, J; Pintos-Morell, G; Ramos-Fransi, A; Rodriguez-Lopez, C; Santalla, A; Santos-Lozano, A, 2018) |
| "McArdle disease is a disorder of carbohydrate metabolism that causes painful skeletal muscle cramps and skeletal muscle damage leading to transient myoglobinuria and increased risk of kidney failure." | ( Alexander, IE; Brull, A; Clayton, JS; Dilworth, KL; Goullee, H; Laing, NG; Lisowski, L; McNamara, EL; Nowak, KJ; Pinós, T; Ravenscroft, G; Taylor, RL, 2020) |
| "McArdle disease is caused by recessive mutations in PYGM gene." | ( Khan, KN; Mahroo, OA; Patasin, M; Pizzamiglio, C; Quinlivan, R, 2021) |
| "McArdle disease is an autosomal recessive genetic disorder caused by a deficiency of the glycogen phosphorylase (myophosphorylase) enzyme, which muscles need to break down glycogen into glucose for energy." | ( Calugi, S; Conti, M; Dalle Grave, A; Dalle Grave, R; Dametti, L; Patacca, E; Soave, F, 2022) |
| "McArdle's disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen." | ( Colomer-Oferil, J; Nascimento-Osorio, A; Ortez-González, CI; Vidal-Sanahuja, R, 2022) |
| "McArdle disease is a rare autosomal recessive disorder caused by mutations in the PYGM gene." | ( Arenas, J; Cerrada, V; Delourme, M; Fuster García, C; Gallardo, ME; García García, G; García-Consuegra, I; Garesse, R; Laberthonnière, C; Magdinier, F; Millán, JM; Moreno-Izquierdo, A; Ortuño-Costela, MDC, 2022) |
| "McArdle disease is a rare autosomal recessive disorder caused by mutations in the PYGM gene." | ( Arenas, J; Cerrada, V; Delourme, M; Fuster García, C; Gallardo, ME; García García, G; García-Consuegra, I; Garesse, R; Laberthonnière, C; Magdinier, F; Millán, JM; Moreno-Izquierdo, A; Ortuño-Costela, MDC, 2022) |
| "McArdle disease is a rare autosomal recessive disorder caused by mutations in the PYGM gene." | ( Arenas, J; Cerrada, V; Delourme, M; Fuster García, C; Gallardo, ME; García García, G; García-Consuegra, I; Garesse, R; Laberthonnière, C; Magdinier, F; Millán, JM; Moreno-Izquierdo, A; Ortuño-Costela, MDC, 2022) |
| "McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown." | ( Andreu, AL; Arenas, J; Fiuza-Luces, C; Krag, TO; Lucia, A; Martín, MA; Nogales-Gadea, G; Pinós, T; Real-Martínez, A; Rodríguez-Aguilera, JC; Santalla, A; Valenzuela, PL; Villarreal-Salazar, M; Vissing, J, 2022) |
| "McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown." | ( Andreu, AL; Arenas, J; Fiuza-Luces, C; Krag, TO; Lucia, A; Martín, MA; Nogales-Gadea, G; Pinós, T; Real-Martínez, A; Rodríguez-Aguilera, JC; Santalla, A; Valenzuela, PL; Villarreal-Salazar, M; Vissing, J, 2022) |