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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...

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Detalhes bibliográficos
Publicado no:Acta Myol
Main Authors: Ardissone, Anna, Moroni, Isabella, Bernasconi, Pia, Brugnoni, Raffaella
Formato: Artigo
Idioma:Inglês
Publicado em: Pacini Editore SRL 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5479107/
https://ncbi.nlm.nih.gov/pubmed/28690392
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