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Sarcomere Dysfunction in Nemaline Myopathy
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients is quite diverse, ranging from neonatal death...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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IOS Press
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467716/ https://www.ncbi.nlm.nih.gov/pubmed/28436394 http://dx.doi.org/10.3233/JND-160200 |