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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...
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| Publicado no: | J Pediatr Neurosci |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer - Medknow
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6935987/ https://ncbi.nlm.nih.gov/pubmed/31908664 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_60_19 |
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