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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:F1000Res
Päätekijät: Ravenscroft, Gianina, Bryson-Richardson, Robert J., Nowak, Kristen J., Laing, Nigel G.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: F1000 Research Limited 2018
Aiheet:
Linkit: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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