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Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review

BACKGROUND: Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway. Derangement of this pathway might also influence the homeostasis of mitochondrial membranes. Autosomal recessive CHKB mutations ca...

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Detalles Bibliográficos
Autores principales:	Magri, Francesca, Antognozzi, Sara, Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ciscato, Patrizia, Velardo, Daniele, Scuvera, Giulietta, Nicotra, Valeria, Giacobbe, Antonella, Milani, Donatella, Fortunato, Francesco, Garbellini, Manuela, Sciacco, Monica, Corti, Stefania, Comi, Giacomo Pietro, Ronchi, Dario
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524117/ https://www.ncbi.nlm.nih.gov/pubmed/36175989 http://dx.doi.org/10.1186/s13395-022-00306-8

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