DOK7-Associated Congenital Myasthenic Syndrome: A Differential Diagnosis of Core Myopathies?

Authors

  • Inês V. Carvalho Serviço de Neurologia / Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal https://orcid.org/0000-0002-2744-3958
  • André Jorge Serviço de Neurologia / Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal https://orcid.org/0000-0002-6209-2356
  • Olinda Rebelo Laboratório de Neuropatologia, Serviço de Neurologia / Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
  • Anabela Matos Serviço de Neurologia / Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

DOI:

https://doi.org/10.46531/sinapse/CE/230073/2023

Keywords:

Myasthenic Syndromes, Congenital

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References

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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Published

2024-01-26

How to Cite

1.
Carvalho IV, Jorge A, Rebelo O, Matos A. DOK7-Associated Congenital Myasthenic Syndrome: A Differential Diagnosis of Core Myopathies?. Sinapse [Internet]. 2024 Jan. 26 [cited 2024 Apr. 16];23(4):230-1. Available from: https://sinapse.pt/index.php/journal/article/view/10

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Letter to the Editor

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