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Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy (GNEM) is an autosomal recessive distal myopathy with rimmed vacuoles typically manifesting in late adolescence/early adulthood. GNE encodes...

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Detalles Bibliográficos
Autores principales: Schmitt, Rebecca E., Smith, Douglas Y., Cho, Dong Seong, Kirkeby, Lindsey A., Resch, Zachary T., Liewluck, Teerin, Niu, Zhiyv, Milone, Margherita, Doles, Jason D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9463157/
https://www.ncbi.nlm.nih.gov/pubmed/36085325
http://dx.doi.org/10.1038/s41536-022-00238-3