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An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant
Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later also distal muscle weakness, mostly involving f...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479285/ https://www.ncbi.nlm.nih.gov/pubmed/32939402 http://dx.doi.org/10.1016/j.ensci.2020.100268 |