A carregar...
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...
Na minha lista:
| Publicado no: | Medwave |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|