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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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| Vydáno v: | Medwave |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2019
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| Témata: | |
| On-line přístup: | 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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