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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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| Veröffentlicht in: | Brain |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Oxford University Press
2015
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| Schlagworte: | |
| Online Zugang: | 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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