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Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy
BACKGROUND AND OBJECTIVES: Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene, DNM2, is a rare neuromuscular disease about which little is known. The objective of this study was to describe the range of clinical presentations and subsequent natural history of DNM2-related CNM. METHO...
Autores principales: | Hayes, Leslie Hotchkiss, Perdomini, Morgane, Aykanat, Asli, Genetti, Casie A., Paterson, Heather L., Cowling, Belinda S., Freitag, Christian, Beggs, Alan H. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9621335/ https://www.ncbi.nlm.nih.gov/pubmed/36324371 http://dx.doi.org/10.1212/NXG.0000000000200027 |
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