International Journal of Advanced Multidisciplinary Research and Studies
Volume 5, Issue 4, 2025
A new variant in UNC50, which manifests phenotypically as congenital myasthenic syndrome, requires extensive clinical, electrophysiological, and biochemical investigations
Author(s): Josef Finsterer
DOI: https://doi.org/10.62225/2583049X.2025.5.4.4626
Abstract:
None.
Keywords: Congenital Myasthenic Syndrome, UNC50, Neuromuscular Transmission, Respiratory Failure, Arthrogryposis
Pages: 473-474
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