A rare cause of autism spectrum disorder: Megaconial muscular dystrophy by Gultekin Kutluk, Naz Kadem, Omer Bektas, Hatice Nur Eroglu

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A rare homozygous variant of CHKB induced severe cardiomyopathy and a cardiac conduction disorder: a case report by Siyuan Jing, Lu Liu, Yifei Li, Fuqiang Liu, Yimin Hua, Hongyu Duan

Subjects: “…CHKB…”
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Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene by Tenghui Wu, Ciliu Zhang, Fang He, Li Yang, Fei Yin, Jing Peng

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

Subjects: “…Choline kinase beta (CHKB)…”
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