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Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene
Congenital myasthenic syndromes (CMS) are rare and heterogeneous genetic diseases characterized by compromised neuromuscular transmission and clinical features of fatigable weakness; age at onset, presenting symptoms, distribution of weakness, and response to treatment differ depending on the underl...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pacini Editore SRL
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479107/ https://www.ncbi.nlm.nih.gov/pubmed/28690392 |