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GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist. A large number of mutations in GNE are pathogenic and this clinical phenotype can be diffic...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236015/ https://www.ncbi.nlm.nih.gov/pubmed/30467490 http://dx.doi.org/10.3389/fneur.2018.00942 |