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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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Podrobná bibliografie
Vydáno v:F1000Res
Hlavní autoři: Ravenscroft, Gianina, Bryson-Richardson, Robert J., Nowak, Kristen J., Laing, Nigel G.
Médium: Artigo
Jazyk:Inglês
Vydáno: F1000 Research Limited 2018
Témata:
On-line přístup: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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