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KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate
The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and conge...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935987/ https://www.ncbi.nlm.nih.gov/pubmed/31908664 http://dx.doi.org/10.4103/jpn.JPN_60_19 |