Related Experiment Video
Updated: Jun 6, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China
Chi-Kong Lau1, Joannie Hui, Fion N Y Fong
1School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Abstract:
The diagnosis of glycogen storage disease (GSD) type IX is often complicated by the complexity of the phosphorylase kinase enzyme (PHK), and molecular analysis is the preferred way to provide definitive diagnosis. Here we reported two novel mutations found in two GSD type IX patients with different residual enzyme activities from Hong Kong, China using genetic analysis and, provided the molecular interpretation of the deficient PHK activity. These two newly described mutations would be useful for the study of future GSD patients.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Inborn Errors of Metabolism
Pharmacogenomics: Identification of New Drug Targets
Lysosomal Hydrolases
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...

