Associated Papers
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.
Koch RL et al.
Npj Genomic Medicine, 2025
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges.
Wang CC et al.
Cns Neuroscience & Therapeutics, 2022
Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.
Munekane A et al.
Internal Medicine (tokyo, Japan), 2022
Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center.
Huang K et al.
Frontiers in Neurology, 2022
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
Carrière C et al.
Biochimica Et Biophysica Acta, 2008
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Burwinkel B et al.
European Journal of Human Genetics : Ejhg, 2003
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