Síndrome Miasténico Congénito por Mutação no Gene DOK7: Diagnóstico Diferencial das Miopatias com Cores?
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https://doi.org/10.46531/sinapse/CE/230073/2023Palavras-chave:
Síndromes Miasténicas CongénitasDownloads
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Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, et al. DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children. Neuromuscul Disord. 2013;23:883-91. doi: 10.1016/j.nmd.2013.06.002.
Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain. 2007;130:1497–506. doi: 10.1093/brain/awm068.
Lorenzoni PJ, Scola RH, Kay CS, Lochmüller H, Werneck LC. Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation. Muscle Nerve. 2013;48:151-2. doi: 10.1002/mus.23724.
Nicolau S, Kao JC, Liewluck T. Trouble at the junction: When myopathy and myasthenia overlap. Muscle Nerve. 2019;60:648–57. doi: 10.1002/mus.26676.
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol. 2008;201-2:6-12. doi: 10.1016/j.jneuroim.2008.06.026.
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Direitos de Autor (c) 2024 Inês V. Carvalho, André Jorge, Olinda Rebelo, Anabela Matos
Este trabalho encontra-se publicado com a Creative Commons Atribuição-NãoComercial 4.0.