| 1 | CCO, MMDO, RYR1
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| Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum.
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| Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG.
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| Neurology 80(17):1584-1589. Epub 2013 Apr 3.
2013
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| 2 | MMDO, RYR1
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| RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
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| Zhou H, Rokach O, Feng L, Munteanu I, Mamchaoui K, Wilmshurst JM, Sewry C, Manzur AY, Pillay K, Mouly V, Duchen M, Jungbluth H, Treves S, Muntoni F.
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| Hum Mutat 2013
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| 3 | CCO, MMDO, RYR1
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| Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
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| Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F.
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| Hum Mutat 33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Erratum in: Hum Mutat. 2012 Aug;33(8):1310. 2012
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| 4 | CCO, MMDO, RYR1
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| Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
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| Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F.
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| Hum Mutat 33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Erratum in: Hum Mutat. 2012 Aug;33(8):1310.
2012
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| 5 | MMDO, RYR1
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| Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
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| Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN.
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| Hum Mutat 31(7):E1544-50.
2010
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| 6 | RYR1, MMDO
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| Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies.
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| Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, Moore GE, Muntoni F.
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| Am J Hum Genet 79(5):859-68. Epub 2006 Sep 21. 2006
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| 7 | RYR1, MMDO
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| Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
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| Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Muller C, Muntoni F.
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| Neurology 65(12):1930-5. 2005
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| 8 | RYR1, MMDO
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| A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
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| Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J.
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| Hum Mol Genet 12(10):1171-8. 2003
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