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Article

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

Skeletal muscle - 29 Sept 2022

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

Abstract excerpt

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 cause a rare form of congenital muscular dystrophy known as megaconial congenital muscular dystrophy (MCMD). CASE...

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Identifiers

PMID: 36175989
DOI: 10.1186/s13395-022-00306-8
PMCID: PMC9524117

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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