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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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Detalles Bibliográficos
Autores principales:	Ravenscroft, Gianina, Bryson-Richardson, Robert J., Nowak, Kristen J., Laing, Nigel G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	F1000 Research Limited 2018
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290972/ https://www.ncbi.nlm.nih.gov/pubmed/30631434 http://dx.doi.org/10.12688/f1000research.16422.1

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