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A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.
Picillo E, Onore ME, Passamano L, Nigro V, Politano L. Picillo E, et al. Acta Myol. 2024 Feb 21;43(1):21-26. doi: 10.36185/2532-1900-411. eCollection 2024. Acta Myol. 2024. PMID: 38586167 Free PMC article. Review.
Glycogen Storage Disease (GSD) IXd, caused by PHKA1 gene mutations, is an X-linked rare disorder that can be asymptomatic or associated with exercise intolerance. GSD type II is an autosomal recessive disorder caused by mutations in the GAA gene that l …
Glycogen Storage Disease (GSD) IXd, caused by PHKA1 gene mutations, is an X-linked rare disorder that can be asy …
A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.
Mori-Yoshimura M, Aizawa K, Oya Y, Saito Y, Fukuda T, Sugie H, Nishino I, Takahashi Y. Mori-Yoshimura M, et al. Neuromuscul Disord. 2022 Sep;32(9):769-773. doi: 10.1016/j.nmd.2022.05.010. Epub 2022 May 24. Neuromuscul Disord. 2022. PMID: 35710611 Review.
PHKA1 mutations are causative for glycogen storage disease type IXd (GSDIXd), a myopathy that can be asymptomatic or associated with exercise intolerance, and rarely is accompanied by weakness or atrophy of limbs. ...Muscle MRI revealed severe but grad …
PHKA1 mutations are causative for glycogen storage disease type IXd (GSDIXd), a myopathy that can be asymptomati …