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Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

The congenital myopathies are a diverse group of genetic skeletal muscle diseases, which typically present at birth or in early infancy. There are multiple modes of inheritance and degrees of severity (ranging from foetal akinesia, through lethality in the newborn period to milder early and later on...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Ravenscroft, Gianina, Laing, Nigel G., Bönnemann, Carsten G.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4306824/
https://ncbi.nlm.nih.gov/pubmed/25552303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu368
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