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Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity

INTRODUCTION: The congenital myasthenic syndromes are a heterogeneous group of genetic disorders characterized by an abnormal synaptic transmission at the neuromuscular junction. REPORT: We present a two-year old patient, male, with hypotonia, palpebral ptosis and proximal symmetric weakness with ne...

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Bibliografske podrobnosti
izdano v:Medwave
Main Authors: Espinoza, Ivan O., Reynoso, Carolina, Chávez, Giulliana, Engel, Andrew G.
Format: Artigo
Jezik:Inglês
Izdano: 2019
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6655474/
https://ncbi.nlm.nih.gov/pubmed/31226102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5867/medwave.2019.05.7645
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