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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...
Uloženo v:
| Vydáno v: | J Pediatr Neurosci |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wolters Kluwer - Medknow
2019
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| Témata: | |
| On-line přístup: | 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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