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

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

Abstract 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 muta...

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Main Authors: Francesca Magri, Sara Antognozzi, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Daniele Velardo, Giulietta Scuvera, Valeria Nicotra, Antonella Giacobbe, Donatella Milani, Francesco Fortunato, Manuela Garbellini, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Format: Article
Language:English
Published: BMC 2022-09-01
Series:Skeletal Muscle
Subjects:
Choline kinase beta (CHKB)
Megaconial congenital muscular dystrophy
Enlarged mitochondria
Mitochondrial dynamics
Online Access:https://doi.org/10.1186/s13395-022-00306-8

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