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...

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Detalles Bibliográficos
Autores principales: Ardissone, Anna, Moroni, Isabella, Bernasconi, Pia, Brugnoni, Raffaella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SRL 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479107/
https://www.ncbi.nlm.nih.gov/pubmed/28690392

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