Author:
Oliveira Jorge,Gonçalves Ana,Taipa Ricardo,Melo-Pires Manuel,Oliveira Márcia E,Costa José Luís,Machado José Carlos,Medeiros Elmira,Coelho Teresa,Santos Manuela,Santos Rosário,Sousa Mário
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference33 articles.
1. Jungbluth, H. & Wallgren-Pettersson, C. in Emery and Rimoin's Principles and Practice of Medical Genetics 6th edn (eds Rimoin, D.L., Pyeritz, R.E. & Korf, B.) Ch. 127, 1–51 (Academic Press, 2014)..
2. Oliveira, J., Oliveira, M. E., Kress, W., Taipa, R., Pires, M. M., Hilbert, P. et al. Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. Eur. J. Hum. Genet. 21, 540–549 (2013).
3. North, K. N., Wang, C. H., Clarke, N., Deconinck, N., Bertini, E., Ferreiro, A. et alInternational Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul. Disord 24, 97–116 (2014).
4. Snoeck, M., van Engelen, B. G., Küsters, B., Lammens, M., Meijer, R., Molenaar, J. P. et al. RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur. J. Neurol. 22, 1094–1112 (2015).
5. Romero, N. B & Clarke, N. F. Congenital myopathies. Handb. Clin. Neurol 113, 1321–1336 (2013).
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