Myopathy and phosphorylase kinase deficiency caused by a mutation in thePHKA1 gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference10 articles.
1. A Splice Junction Mutation in the αMGene of Phosphorylase Kinase in a Patient with Myopathy
2. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases
3. Sporadic early adult-onset distal myopathy with rimmed vacuoles: immunohistochemistry and electron microscopy
4. Adult phosphorylaseb kinase deficiency
5. cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.
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1. A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review;Neuromuscular Disorders;2022-09
2. Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center;Frontiers in Neurology;2022-08-11
3. Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges;CNS Neuroscience & Therapeutics;2022-08-11
4. Identification of molecular subtypes and a novel prognostic model of diffuse large B-cell lymphoma based on a metabolism-associated gene signature;Journal of Translational Medicine;2022-04-25
5. Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency;Internal Medicine;2022
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