| 1 | GSD2B, LAMP2
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| LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
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| Majer F, Piherova L, Reboun M, Stara V, Pelak O, Norambuena P, Stranecky V, Krebsova A, Vlaskova H, Dvorakova L, Kmoch S, Kalina T, Kubanek M, Sikora J.
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| Am J Med Genet A. Nov;176(11):2430-2434. doi: 10.1002/ajmg.a.40430. Epub 2018 Sep 8. 2018
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| 2 | GSD2B, LAMP2
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| Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.
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| Tuñón T, Guerrero D, Urchaga A, Nishino I, Ayuso T, Matsuda Y, Caballero MC, Berjón J, Imizcoz MA.
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| Neuromuscul Disord 18(2):167-74. Epub 2007 Dec 3.PMID: 18061453 2008
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| 3 | GSD2B, MUSK2
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| Dropped head syndrome as prominent clinical feature in MuSK-positive Myasthenia Gravis with thymus hyperplasia.
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| Spengos K, Vassilopoulou S, Papadimas G, Tsivgoulis G, Karandreas N, Zambelis T, Manta P.
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| Neuromuscul Disord 18(2):175-7. Epub 2007 Nov 28.PMID: 18053719 2008
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| 4 | LAMP2, GSD2B
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| Danon disease presenting with dilated cardiomyopathy and a complex phenotype.
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| Taylor MR, Ku L, Slavov D, Cavanaugh J, Boucek M, Zhu X, Graw S, Carniel E, Barnes C, Quan D, Prall R, Lovell MA, Mierau G, Ruegg P, Mandava N, Bristow MR, Towbin JA, Mestroni L; Familial Cardiomyopathy Registry.
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| J Hum Genet 52(10):830-5. 2007
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| 5 | LA/MP2, GSD2B
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| Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.
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| Echaniz-Laguna A, Mohr M, Epailly E, Nishino I, Charron P, Richard P, Guiraud-Chaumeil C, Tranchant C.
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| Muscle Nerve 33(3):393-7. 2006
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| 6 | GSD2B, LAMP2
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| Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).
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| Lobrinus JA, Schorderet DF, Payot M, Jeanrenaud X, Bottani A, Superti-Furga A, Schlaepfer J, Fromer M, Jeannet PY.
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| Neuromuscul Disord 15(4):293-8. 2005
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| 7 | LAMP2, GSD2B
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| Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.
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| Balmer C, Ballhausen D, Bosshard NU, Steinmann B, Boltshauser E, Bauersfeld U, Superti-Furga A.
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| Eur J Pediatr 164(8):509-14. Epub 2005 May 12. 2005
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| 8 | GSD2B, LAMP2
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| Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.
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| Yang Z, McMahon CJ, Smith LR, Bersola J, Adesina AM, Breinholt JP, Kearney DL, Dreyer WJ, Denfield SW, Price JF, Grenier M, Kertesz NJ, Clunie SK, Fernbach SD, Southern JF, Berger S, Towbin JA, Bowles KR, Bowles NE.
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| Circulation 112(11):1612-7. Epub 2005 Sep 6. 2005
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| 9 | GSD2B,LAMP2
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| Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.
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| Bertini E, Donati MA, Broda P, Cassandrini D, Petrini S, Dionisi-Vici C, Ballerini L, Boldrini R, D'Amico A, Pasquini E, Minetti C, Santorelli FM, Bruno C.
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| Neuropediatrics 36(5):309-13. 2005
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| 10 | LAMP2, GSD2B
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| Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).
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| Takahashi M, Yamamoto A, Takano K, Sudo A, Wada T, Goto Y, Nishino I, Saitoh S.
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| Ann Neurol 52(1):122-5. 2002
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| 11 | GSD2B, LAMP2
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| Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
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| Lacoste-Collin L, Garcia V, Uro-Coste E, Arne-Bes MC, Durand D, Levade T, Delisle MB.
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| Neuromuscul Disord 12(9):882-5. 2002
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| 12 | GSD2B, LAMP2
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| Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy.
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| Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M.
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| Nature 406(6798):906-10. 2000
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| 13 | GSD2B, LAMP2
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| Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice.
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| Tanaka Y, Guhde G, Suter A, Eskelinen EL, Hartmann D, Lullmann-Rauch R, Janssen PM, Blanz J, von Figura K, Saftig P.
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| Nature 406(6798):902-6. 2000
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