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Recent advances in understanding congenital myopathies

By definition, congenital myopathy typically presents with skeletal muscle weakness and hypotonia at birth. Traditionally, congenital myopathy subtypes have been predominantly distinguished on the basis of the pathological hallmarks present on skeletal muscle biopsies. Many genes cause congenital my...

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Detalhes bibliográficos
Publicado no:F1000Res
Main Authors: Ravenscroft, Gianina, Bryson-Richardson, Robert J., Nowak, Kristen J., Laing, Nigel G.
Formato: Artigo
Idioma:Inglês
Publicado em: F1000 Research Limited 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6290972/
https://ncbi.nlm.nih.gov/pubmed/30631434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.16422.1
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