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
Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center.
Huang K et al.
Frontiers in Neurology, 2022
An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd.
Li H et al.
Neuromuscular Disorders : Nmd, 2020
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