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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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| Τόπος έκδοσης: | Medwave |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2019
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| Θέματα: | |
| Διαθέσιμο Online: | 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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