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...

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Detalles Bibliográficos
Autores principales: Hayes, Leslie Hotchkiss, Perdomini, Morgane, Aykanat, Asli, Genetti, Casie A., Paterson, Heather L., Cowling, Belinda S., Freitag, Christian, Beggs, Alan H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
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

Internet

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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