Related Experiment Video

Updated: Sep 23, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

Yongxian Shao1, Taolin Li1, Minyan Jiang1

  • 1Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

BMC Pediatrics
|May 13, 2022
PubMed
Abstract

Keywords:
Case reportGlycogen storage diseasePHKG2Phosphorylase b kinase

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